Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23499
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule actin crosslinking factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MACF1
Synonyms (NCBI Gene) Gene synonyms aliases
ABP620, ACF7, KIAA0754, LIS9, Lnc-PMIF, MACF, OFC4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIS9
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtu
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs559634261 G>A Likely-pathogenic Coding sequence variant, missense variant
rs755081350 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1488808726 G>C Pathogenic Coding sequence variant, missense variant
rs1557668270 G>T Pathogenic Coding sequence variant, missense variant
rs1557670503 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018609 hsa-miR-335-5p Microarray 18185580
MIRT024354 hsa-miR-215-5p Microarray 19074876
MIRT024354 hsa-miR-215-5p Microarray 19074876
MIRT026727 hsa-miR-192-5p Microarray 19074876
MIRT031887 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003779 Function Actin binding IDA 10559237
GO:0005198 Function Structural molecule activity IBA 21873635
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15265687, 17043677, 27693509, 27802168, 31413325
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608271 13664 ENSG00000127603
Protein
UniProt ID Q9UPN3
Protein name Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha)
Protein function [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtub
PDB 4Z6G , 5VE9 , 5X57
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 78 182 Calponin homology (CH) domain Domain
PF00307 CH 194 299 Calponin homology (CH) domain Domain
PF17902 SH3_10 857 923 SH3 domain Domain
PF18373 Spectrin_like 958 1035 Spectrin like domain Domain
PF00681 Plectin 1578 1618 Plectin repeat Repeat
PF00681 Plectin 1655 1695 Plectin repeat Repeat
PF00681 Plectin 1769 1809 Plectin repeat Repeat
PF00681 Plectin 1807 1847 Plectin repeat Repeat
PF00681 Plectin 2291 2331 Plectin repeat Repeat
PF00681 Plectin 2367 2407 Plectin repeat Repeat
PF00681 Plectin 2405 2439 Plectin repeat Repeat
PF00681 Plectin 2501 2541 Plectin repeat Repeat
PF00681 Plectin 2687 2727 Plectin repeat Repeat
PF00435 Spectrin 3882 3994 Spectrin repeat Domain
PF00435 Spectrin 3999 4109 Spectrin repeat Domain
PF00435 Spectrin 4465 4574 Spectrin repeat Domain
PF00435 Spectrin 4798 4905 Spectrin repeat Domain
PF00435 Spectrin 4908 5012 Spectrin repeat Domain
PF00435 Spectrin 5234 5341 Spectrin repeat Domain
PF00435 Spectrin 5344 5450 Spectrin repeat Domain
PF00435 Spectrin 5453 5559 Spectrin repeat Domain
PF00435 Spectrin 5780 5885 Spectrin repeat Domain
PF00435 Spectrin 6004 6110 Spectrin repeat Domain
PF00435 Spectrin 6113 6220 Spectrin repeat Domain
PF00435 Spectrin 6223 6329 Spectrin repeat Domain
PF00435 Spectrin 6332 6439 Spectrin repeat Domain
PF00435 Spectrin 6442 6548 Spectrin repeat Domain
PF00435 Spectrin 6551 6658 Spectrin repeat Domain
PF00435 Spectrin 6663 6766 Spectrin repeat Domain
PF00435 Spectrin 6769 6875 Spectrin repeat Domain
PF13499 EF-hand_7 7043 7107 EF-hand domain pair Domain
PF02187 GAS2 7122 7190 Growth-Arrest-Specific Protein 2 Domain Family
Tissue specificity TISSUE SPECIFICITY: Isoform 2: Ubiquitously expressed. Isoform 1: Expressed in cell lines NCI-H460, A-549 and HaCaT. Isoform 4: Expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle. {ECO:0000269|
Sequence
MSSSDEETLSERSCRSERSCRSERSYRSERSGSLSPCPPGDTLPWNLPLHEQKKRKSQDS
VLDPAERAVVRVADERDRVQKKTFTKWVNKHLMKVRKHINDLYEDLRDGHNLISLLEVLS
GIKLPREKGRMRFHRLQNVQIALDFLKQRQVKLVNIRNDDITDGNPKLTLGLIWTIILHF
QI
SDIYISGESGDMSAKEKLLLWTQKVTAGYTGIKCTNFSSCWSDGKMFNALIHRYRPDL
VDMERVQIQSNRENLEQAFEVAERLGVTRLLDAEDVDVPSPDEKSVITYVSSIYDAFPK
V
PEGGEGISATEVDSRWQEYQSRVDSLIPWIKQHTILMSDKTFPQNPVELKALYNQYIHFK
ETEILAKEREKGRIEELYKLLEVWIEFGRIKLPQGYHPNDVEEEWGKLIIEMLEREKSLR
PAVERLELLLQIANKIQNGALNCEEKLTLAKNTLQADAAHLESGQPVQCESDVIMYIQEC
EGLIRQLQVDLQILRDENYYQLEELAFRVMRLQDELVTLRLECTNLYRKGHFTSLELVPP
STLTTTHLKAEPLTKATHSSSTSWFRKPMTRAELVAISSSEDEGNLRFVYELLSWVEEMQ
MKLERAEWGNDLPSVELQLETQQHIHTSVEELGSSVKEARLYEGKMSQNFHTSYAETLGK
LETQYCKLKETSSFRMRHLQSLHKFVSRATAELIWLNEKEEEELAYDWSDNNSNISAKRN
YFSELTMELEEKQDVFRSLQDTAELLSLENHPAKQTVEAYSAAVQSQLQWMKQLCLCVEQ
HVKENTAYFQFFSDARELESFLRNLQDSIKRKYSCDHNTSLSRLEDLLQDSMDEKEQLIQ
SKSSVASLVGRSKTIVQLKPRSPDHVLKNTISVKAVCDYRQIEITICKNDECVLEDNSQR
TKWKVISPTGNEAMVPSVCFLIP
PPNKDAIEMASRVEQSYQKVMALWHQLHVNTKSLISW
NYLRKDLDLVQTWNLEKLRSSAPGECHQIMKNLQAHYEDFLQDSRDSVLFSVADRLRLEE
EVEACKARFQHLMKS
MENEDKEETVAKMYISELKNIRLRLEEYEQRVVKRIQSLASSRTD
RDAWQDNALRIAEQEHTQEDLQQLRSDLDAVSMKCDSFLHQSPSSSSVPTLRSELNLLVE
KMDHVYGLSTVYLNKLKTVDVIVRSIQDAELLVKGYEIKLSQEEVVLADLSALEAHWSTL
RHWLSDVKDKNSVFSVLDEEIAKAKVVAEQMSRLTPERNLDLERYQEKGSQLQERWHRVI
AQLEIRQSELESIQEVLGDYRACHGTLIKWIEETTAQQEMMKPGQAEDSRVLSEQLSQQT
ALFAEIERNQTKLDQCQKFSQQYSTIVKDYELQLMTYKAFVESQQKSPGKRRRMLSSSDA
ITQEFMDLRTRYTALVTLTTQHVKYISDALRRLEEEEKVVEEEKQEHVEKVKELLGWVST
LARNTQGKATSSETKESTDIEKAILEQQVLSEELTTKKEQVSEAIKTSQIFLAKHGHKLS
EKEKKQISEQLNALNKAYHDLCDGSANQLQQLQSQLAHQTEQKECRAVAGVIDLGTVEIF
PIFKAMQKGLLDQDTGLVLLESQVIMSGLIAPETGENLSLEEGIARNLINPQMYQQLREL
QDALALISRLTESRGPLSVVEAIEKRIISETVGLKILEAHLATGGFSLSPSENCINLEEA
FHQGLISAWLHSVLE
SYLRTSKNLIDPNTAEKIGLLDLMQRCIVHQESGFKLLPVKQLAG
GMVSLKSGRKVSIFRAVQEGLIDRQVTVRLLEAQLFAGGIVDPRTGHRLTVEEAVRHNLI
DQDMAC
AILIRQLQTGGIIDTVTGQRLTIDEAVSNDLVAAKIALVILESLWSFMGLLWPE
SGEILPITDALEQGIVSTELAHKILSNRQHIKALFLPATTEILSWKKAIESGILDRDLAN
NLKSICIPDVMPHMQLADSAEQNINPGAAVLPCSKSHPKATASQSENLLFQLMTHSYINV
QNGQRLLLLDKELMETLTSRDEYQTSPPKVVEIGHQRQKTPEGLQESANVKISGTFSSGW
TVRLPEFQFSSQNKEYPDREDCTTEKGKKTTVETEDSSVENPEQDLFVEQKERNPNIDAL
KVINKVKLEVQRQLIGTQREDQTAVSVRENASRGHLLTIPPAEAEGVPLVVDKDVFSVET
PKKEHQPLRNTSFTCQNEQAHTLETEYIHDETGGSHIKPQSKKLQVQVKKTLGIKLELKS
ETDGNVHPLDKKEMLKKTFLAKDDHKESQEAQNIAGGSMMMSEKTDEEDSGREIFLSCSH
PLELLEEATLNVLSAQLLDGGIFHEQTGQKLLLNEAISRGIVPSHTAVKLMEKLNMFQGF
FDSQTCESLTTEEVINEGLMDEKLLHNVLMADKAISGVLDPRTQTLCSVKDAVTVGLLDK
ETAT
RILERQVVTGGIIDLKRGKKVSVTLASTLGLVDVADQPELINLEKASKGRDAEKTV
RERLISLQMETTGLIDPDSKAPLTVVQSIDRGLLEREEAVRLLTKQVVDGGIIHHISGMR
LSVDNAFRHGLIGEDLAEKLK
RVENLNIHQIFNPETKENISLPKAIKLDLITSDLKREIQ
EVQAFTGNFVDLISGQRLTLAEAKKEGLLTNEAVLSPGMMHGIVDPENCRIVPYSELVKK
CKIDIESGQRYLEVIPFSDIKDGVSDKVLTLSQAIQLGKVDFASTLKVLEAQANTGGIID
TATGKRLTLASALEEKLVDENMVRIIA
SHQVLNGGIVDIFSDQRVTLVEAIEKRLISPEL
ANMIQIDSSEFSDHRAQIEKQEGIEVCALQNEFLGKDMLIACNQTAEMSCNKVEESERLF
QVENQSAQEKVKVRVSDGEQAKKSREISLKEFGCKDQRKPRMSSDAKEFISIINPHNLKG
KSLGQVSLTHPYSECDFKLKEVARNNMGNDTNEEQEKAVTKIEIISHMKQSTSCLDSEEI
RENQGEVILEVQETYCETSGKLPSEQVLQQPMNARVKSKREKREVIVEESIRTCKPAFLS
EEKLYQETAIRDEHDSHIKSQPREMTSSEKGKEADTEMGFSITFKIEESSSQVVPQGISV
KHLDALTLFSSKQANEGKVNNLSLCLTLKPEENLSREIACGAQSEPFPCMTPRPEGLHYQ
ESDGKAQVTGPSQISKTDKSFQGTTRQETNYQDSWVTSKTKETKHQISSSNECKEKSYQE
VSFDPARGLKLEEITVSRPDSKEVRYLEFSDRKDLHHQGSKSDDKLCGTLKSEIATQELT
GEKFLEMANPNVAGLEAGSIEDIVTQRGSRVLGSFLPEKLFKGVSQKENTGQQNAIISPT
VLETSEEKTVSLTVCSAVKTEKTPQEKLRESPGSEQTPFMTAPEGKGNGGVNPEPFRATQ
NVFTRQLCLEHDEKLVSYLSLLRNIEMRTKQIQPLELNLAELQDLLCQAKVLERELKDLT
TLVSQELECVNQIIISQPQEVPAQLLKALEKDAKNLQKSLSSVSDTWNSRLLHFQNAVEI
EKTKVLNQHTQLEGRLQDLRAWVGNKNLILNSKGSNSEIDVDSLNLCLQQYEDLKQPMAE
RKAQLDALAFDIQFFISEHAQDLSPQQNRQMLRLLNELQRSFQDILEQTAAQVDALQGHL
QQMEQEALVKTLQKQQNTCHQQLEDLCSWVGQAERALAGHQGRTTQQDLSALQKNQSDLK
DLQDDIQNRATSFATVVKDIEGFMEENQTKLSPRELTALREKLHQAKEQYEALQEETRVA
QKELEEAVTSALQQETEKSKAAKELAENKKKIDALLDWVTSVGSSGGQLLTNLPGMEQLS
GASLEKGALDTTDGYMGVNQAPEKLDKQCEMMKARHQELLSQQQNFILATQSAQAFLDQH
GHNLTPEEQQMLQQKLGELKEQYSTSLAQSEAELKQVQTLQDELQKFLQDHKEFESWLER
SEKELENMHKGGSSPETLPSLLKRQGSFSEDVISHKGDLRFVTISGQKVLDMENSFKEGK
EPSEIGNLVKDKLKDATERYTALHSKCTRLGSHL
NMLLGQYHQFQNSADSLQAWMQACEA
NVEKLLSDTVASDPGVLQEQLATTKQLQEELAEHQVPVEKLQKVARDIMEIEGEPAPDHR
HVQETTDSILSHFQSLSYSLAERSSLLQK
AIAQSQSVQESLESLLQSIGEVEQNLEGKQV
SSLSSGVIQEALATNMKLKQDIARQKSSLEATREMVTRFMETADSTTAAVLQGKLAEVSQ
RFEQLCLQQQEKESSLKKLLPQAEMFEHLSGKLQQFMENKSRMLASGNQPDQDITHFFQQ
IQELNLEMEDQQENLDTLEHLVTELSSCGFALDLCQHQDRVQNLRKDFTELQKTVKEREK
DASSCQEQLDEFRKLVRTFQKWLKETEGSIPPTETSMSAKELEKQIEHLKSLLDDWASKG
TLVEEINCKGTSLENLIMEITAPDSQGKTGSILPSVGSSVGSVNGYHTCKDLTEIQCDMS
DVNLKYEKLGGVLHERQESLQAILNRMEEVHKEANSVLQWLESKEEVLKSMDAMSSPTKT
ETVKAQAESNKAFLAELEQNSPKIQKVKEALAGLLVTYPNSQEAENWKKIQEELNSRWER
ATEVTVARQRQLEE
SASHLACFQAAESQLRPWLMEKELMMGVLGPLSIDPNMLNAQKQQV
QFMLKEFEARRQQHEQLNEAAQGILTGPGDVSLSTSQVQKELQSINQKWVELTDKLNSRS
SQIDQAIVKSTQYQELLQDLSEKVRAVGQRLSVQSAISTQPEAVKQQLEETSEIRSDLEQ
LDHEVKEAQTLCDELSVLIGEQYLKDELKKRLETVALPLQGLEDLAADRINRLQAALAST
QQFQQMFDELRTWLDDKQSQQAKNCPISAKLERLQSQLQENEEFQKSLNQHSGSYEVIVA
EGESLLLSVPPGEEKRTLQNQLVELKNHWEELSKKTADRQSRLKD
CMQKAQKYQWHVEDL
VPWIEDCKAKMSELRVTLDPVQLESSLLRSKAMLNEVEKRRSLLEILNSAADILINSSEA
DEDGIRDEKAGINQNMDAVTEELQAKTGSLEE
MTQRLREFQESFKNIEKKVEGAKHQLEI
FDALGSQACSNKNLEKLRAQQEVLQALEPQVDYLRNFTQGLVEDAPDGSDASQLLHQAEV
AQQEFLEVKQRVNSGCVMMENKLEGIGQFHCRVREMFSQLADLDDELDGMGAIGRDTDSL
QSQIEDVRLFLNKIHVLKLDIEASEAECRHMLEEEGTLDLLGLKRELEALNKQCGKLTER
GKARQEQLELTLGRVEDFYRKLKGLNDATTAAEEAEALQWVVGTEVEIINQQLADFKMFQ
KEQVDPLQMKLQQVNGLGQGLIQSAGKDCDVQGLEHDMEEINARWNTLNKKVAQRIAQLQ
E
ALLHCGKFQDALEPLLSWLADTEELIANQKPPSAEYKVVKAQIQEQKLLQRLLDDRKAT
VDMLQAEGGRIAQSAELADREKITGQLESLESRWTELLSKAAARQKQLED
ILVLAKQFHE
TAEPISDFLSVTEKKLANSEPVGTQTAKIQQQIIRHKALNEEIVNRKKNVDQAIKNGQAL
LKQTTGEEVLLIQEKLDGIKTRYADITVTSSKALRTLEQ
ARQLATKFQSTYEELTGWLRE
VEEELATSGGQSPTGEQIPQFQQRQKELKKEVMEHRLVLDTVNEVSRALLELVPWRAREG
LDKLVSDANEQYKLVSDTIGQRVDEIDAAIQRSQQYEQAADAELAWVAETKRKLMALGPI
RLEQDQTTAQLQVQKAFSIDIIRHKDSMDELFSHRSEIFGTCGEEQKTVLQEKTESLIQQ
YEAISLLNSERYARLERAQVLVNQFWETYEELSPWIEETRALIAQLPSPAIDHEQLRQQQ
EEMRQLRESIAEHKPHIDKLLKIGPQLKELNPEEGEMVEEKYQKAENMYAQIKEEVRQRA
LALDE
AVSQSTQITEFHDKIEPMLETLENLSSRLRMPPLIPAEVDKIRECISDNKSATVE
LEKLQPSFEALKRRGEELIGRSQGADKDLAAKEIQDKLDQMVFFWEDIKARAEEREIKFL
DVLELAEKFWYDMAALLTTIKDTQDIVHDLESPGIDPSIIKQQVEAAETIKEETDGLHEE
LEFIRILGADLIFACGETEKPEVRKSIDEMNNAWENLNKTWKERLEKLED
AMQAAVQYQD
TLQAMFDWLDNTVIKLCTMPPVGTDLNTVKDQLNEMKEFKVEVYQQQIEMEKLNHQGELM
LKKATDETDRDIIREPLTELKHLWENLGEKIAHRQHKLEG
ALLALGQFQHALEELMSWLT
HTEELLDAQRPISGDPKVIEVELAKHHVLKNDVLAHQATVETVNKAGNELLESSAGDDAS
SLRSRLEAMNQCWESVLQKTEEREQQLQS
TLQQAQGFHSEIEDFLLELTRMESQLSASKP
TGGLPETAREQLDTHMELYSQLKAKEETYNQLLDKGRLMLLSRDDSGSGSKTEQSVALLE
QKWHVVSSKMEERKSKLEE
ALNLATEFQNSLQEFINWLTLAEQSLNIASPPSLILNTVLS
QIEEHKVFANEVNAHRDQIIELDQTGNQLKFLSQKQDVVLIKNLLVSVQSRWEKVVQRSI
ERGRSLDD
ARKRAKQFHEAWKKLIDWLEDAESHLDSELEISNDPDKIKLQLSKHKEFQKT
LGGKQPVYDTTIRTGRALKEKTLLPEDSQKLDNFLGEVRDKWDTVCGKSVERQHKLEE
AL
LFSGQFMDALQALVDWLYKVEPQLAEDQPVHGDLDLVMNLMDAHKVFQKELGKRTGTVQV
LKRSGRELIENSRDDTTWVKGQLQELSTRWDTVCKLSVSKQSRLEQ
ALKQAEVFRDTVHM
LLEWLSEAEQTLRFRGALPDDTEALQSLIDTHKEFMKKVEEKRVDVNSAVAMGEVILAVC
HPDCITTIKHWITIIRARFEEVLTWAKQHQQRLET
ALSELVANAELLEELLAWIQWAETT
LIQRDQEPIPQNIDRVKALIAEHQTFMEEMTRKQPDVDRVTKTYKRKNIEPTHAPFIEKS
RSGGRKSLSQPTPPPMPILSQSEAKNPRINQLSARWQQVWLLALERQRKLNDALDRLEEL
KEFANFDFDVWRKKYMRWMNHKKSRVMDFFRRIDKDQDGKITRQEFIDGILASKFPTTKL
EMTAVADIFDRDGDGYIDYYEFVAALH
PNKDAYRPTTDADKIEDEVTRQVAQCKCAKRFQ
VEQIGENKYRFGDSQQLRLVRILRSTVMVRVGGGWMALDEFLVKNDPCRA
RGRTNIELRE
KFILPEGASQGMTPFRSRGRRSKPSSRAASPTRSSSSASQSNHSCTSMPSSPATPASGTK
VIPSSGSKLKRPTPTFHSSRTSLAGDTSNSSSPASTGAKTNRADPKKSASRPGSRAGSRA
GSRASSRRGSDASDFDLLETQSACSDTSESSAAGGQGNSRRGLNKPSKIPTMSKKTTTAS
PRTPGPKR
Sequence length 7388
UniProt ID O94854
Protein name Microtubule-actin cross-linking factor 1, isoforms 6/7 (Uncharacterized protein KIAA0754)
Family and domains
Sequence
MPPNFPEFAERIEASLSEVSEAGASNPSLQEKKESSSALTESSGHLDHREPQSESVTLEH
VSKSIGIPEVQDFKNLSGDCQDFRFQQHSANPPHEFQPVESEAVATSGNTDVMQESRFSS
ATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLDPELHVLITPSLREKTE
SELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADEKNSLADIFEEREQANTAVVEDGS
DCLAAVLRTFGHLSLGQICCPDDPQPAKDQLATVPKDIPLDCDCVLTGEDILGEVANRTA
QGLEGLVSDSACTVGTIDAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLA
ASQDAENLLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVELIA
HVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDPGGLLNSDHRVSHEEKL
SGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFSFAFNHELTDVTSGPEVEVLYESN
LLTDEIHLESGNVTVNQENNSLTSMGNVVTCELSVEKVCDEDGEAKELDYQATLLEDQAP
AHFHRNFPEQVFQDLQRKSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGE
MERRDSDSFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPSPEE
GTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAAVSAPERATVPAVTVSV
PEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSPEWAALAITVPITEEDGTPEGPVT
PATTVHAPEEPDTAAVRVSTPEEPASPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPP
EEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAA
AVPTPEEPTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTPEES
ASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAASVPTPAAMVATLEEFT
SPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEEPTSSAAAVLTPEELSSPAASVPT
PEEPASPAAAVSNLEEPASPAAAVPTPEVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIG
VPFLGVSAHTDSVPISEEGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAA
TAGLNSDEVIVHFDSGKGLKSKVRFAGLTWW
Sequence length 1291
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 27207650
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
27207650
Colorectal neoplasms Colorectal Neoplasms, Malignant neoplasm of large intestine rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
27207650
Unknown
Disease term Disease name Evidence References Source
Deafness autosomal dominant nonsyndromic hearing loss GenCC
Diabetes Diabetes GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23874428, 37589509
Atherosclerosis Associate 36207684
Autism Spectrum Disorder Associate 39781307, 40350249
Autistic Disorder Associate 39781307
Bone Diseases Associate 32143362
Brain Stem Neoplasms Associate 30471716
Breast Neoplasms Associate 35589867
Carcinoma Renal Cell Associate 24504440, 39871215
Central Nervous System Vascular Malformations Associate 30471716
Child Development Disorders Pervasive Associate 39781307