MALRD1 (MAM and LDL receptor class A domain containing 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340895
Gene name Gene Name - the full gene name approved by the HGNC.
MAM and LDL receptor class A domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MALRD1
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf112, DIET1, bA265G8.2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during di
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IDA
GO:0016020 Component Membrane IEA
GO:0030659 Component Cytoplasmic vesicle membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617715 24331 ENSG00000204740
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5VYJ5
Protein name MAM and LDL-receptor class A domain-containing protein 1
Protein function Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00629 MAM 73 → 228 MAM domain, meprin/A5/mu Domain
PF00629 MAM 270 → 426 MAM domain, meprin/A5/mu Domain
PF00057 Ldl_recept_a 432 → 470 Low-density lipoprotein receptor domain class A Repeat
PF00629 MAM 476 → 636 MAM domain, meprin/A5/mu Domain
PF00629 MAM 654 → 815 MAM domain, meprin/A5/mu Domain
PF00629 MAM 865 → 1023 MAM domain, meprin/A5/mu Domain
PF00057 Ldl_recept_a 1048 → 1085 Low-density lipoprotein receptor domain class A Repeat
PF00629 MAM 1090 → 1255 MAM domain, meprin/A5/mu Domain
PF00057 Ldl_recept_a 1262 → 1300 Low-density lipoprotein receptor domain class A Repeat
PF00629 MAM 1307 → 1464 MAM domain, meprin/A5/mu Domain
PF00629 MAM 1521 → 1675 MAM domain, meprin/A5/mu Domain
PF00057 Ldl_recept_a 1682 → 1719 Low-density lipoprotein receptor domain class A Repeat
PF00629 MAM 1729 → 1891 MAM domain, meprin/A5/mu Domain
PF00057 Ldl_recept_a 1901 → 1938 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1945 → 1981 Low-density lipoprotein receptor domain class A Repeat
PF00008 EGF 2022 → 2055 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in the small intestine. {ECO:0000269|PubMed:23747249}.
Sequence 
MLFFLDRMLAFPMNETFCCLWIACVFNSTLAQQGTESFQCDNGVSLPPDSICDFTDQCGD
SSDERHCLNYERCDFEDGLCHMTQDQSLQPSWTKRSGMIGLSPPFYDHNGDVSAHFLSLV
SRVDSISSSLRSRVFLPTNDQHDCQITFYYFSCQVSGKLMVGLQTACGGPIQHLWQNTAA
LPNQWERNVIKIQSSQRFQVVFEGQMASTYEQDEVIAIDDISFSSGCLPANDGILLCQEA
LNAERELCHPDTDLCRFDATDEELRLCQACGFEFDMCEWTSEASAGQISWMRTKAREIPA
FESTPQQDQGGDDEGYYVWVGAKHGFTLNHLDSRAYLNSSVCHCLGKSCHLQFYYAMESS
VLRVRLYNNKEEEIFWTYNISTHSQWVKADVLIPEDLKTFKIIFEGTLLSQRSFIALDHL
WVYACGQTQSRKLCSADEFPCTSGQCIAKESVCDSRQDCSDESDEDPATCSKHLTCDFES
GFCGWEPFLTEDSHWKLMKGLNNGEHHFPAADHTANINHGSFIYLEAQRSPGVAKLGSPV
LTKLLTASTPCQVQFWYHLSQHSNLSVFTRTSLDGNLQKQGKIIRFSESQWSHAKIDLIA
EAGESTLPFQLILEATVLSSNATVALDDISVSQECEISYKSLPRTSTQSKFSKCDFEANS
CDWFEAISGDHFDWIRSSQSELSADFEHQAPPRDHSLNASQGHFMFILKKSSSLWQVAKL
QSPTFSQTGPGCILSFWFYNYGLSVGAAELQLHMENSHDSTVIWRVLYNQGKQWLEATIQ
LGRLSQPFHLSLDKVSLGIYDGVSAIDDIRFENCTLPLPAESCEGLDHFWCRHTRACIEK
LRLCDLVDDCGDRTDEVNCAPELQCNFETGICNWEQDAKDDFDWTRSQGPTPTLNTGPMK
DNTLGTAKGHYLYIESSEPQAFQDSAALLSPILNATDTKGCTFRFYYHMFGKRIYRLAIY
QRIWSDSRGQLLWQIFGNQGNRWIRKHLNISSRQPFQILVEASVGDGFTGDIAIDDLSFM
DCTLYPGNLPADLPTPPETSVPVTLPPHNCTDNEFICRSDGHCIEKMQKCDFKYDCPDKS
DEASCVMEVCSFEKRSLCKWYQPIPVHLLQDSNTFRWGLGNGISIHHGEENHRPSVDHTQ
NTTDGWYLYADSSNGKFGDTADILTPIISLTGPKCTLVFWTHMNGATVGSLQVLIKKDNV
TSKLWAQTGQQGAQWKRAEVFLGIRSHTQIVFRAKRGISYIGDVAVDDISFQDCSPLLSP
ERKCTDHEFMCANKHCIAKDKLCDFVNDCADNSDETTFICRTSSGRCDFEFDLCSWKQEK
DEDFDWNLKASSIPAAGTEPAADHTLGNSSGHYIFIKSLFPQQPMRAARISSPVISKRSK
NCKIIFHYHMYGNGIGALTLMQVSVTNQTKVLLNLTVEQGNFWRREELSLFGDEDFQLKF
EGRVGKGQRGDIALDDIVLTENCLSLHDSVQEELAVPLPTGFCPLGYRECHNGKCYRLEQ
SCNFVDNCGDNTDENECGSSCTFEKGWCGWQNSQADNFDWVLGVGSHQSLRPPKDHTLGN
ENGHFMYLEATAVGLRGDKAHFRSTMWRESSAACTMSFWYFVSAKATGSIQILIKTEKGL
SKVWQESKQNPGNHWQKADILLGKLRNFEVIFQGIRTRDLGGGAAIDDIEFKNCTTVGEI
SELCPEITDFLCRDKKCIASHLLCDYKPDCSDRSDEAHCAHYTSTTGSCNFETSSGNWTT
ACSLTQDSEDDLDWAIGSRIPAKALIPDSDHTPGSGQHFLYVNSSGSKEGSVARITTSKS
FPASLGMCTVRFWFYMIDPRSMGILKVYTIEESGLNILVWSVIGNKRTGWTYGSVPLSSN
SPFKVAFEADLDGNEDIFIALDDISFTPECVTGGPVPVQPSPCEADQFSCIYTLQCVPLS
GKCDGHEDCIDGSDEMDCPLSPTPPLCSNMEFPCSTDECIPSLLLCDGVPDCHFNEDELI
CSNKSCSNGALVCASSNSCIPAHQRCDGFADCMDFQLDESSCSECPLNYCRNGGTCVVEK
NGPMCRCRQGWKGNRCHIKFNPPATDFTYAQNNTWTLLGIGLAFLMTHITVAVLCFLANR
KVPIRKTEGSGNCAFVNPVYGNWSNPEKTESSVYSFSNPLYGTTSGSLETLSHHLK
Sequence length 2156
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Lung adenocarcinoma Familial lung adenocarcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 19103277
Carcinoma Signet Ring Cell Associate 36779496
Endometriosis Associate 25083881
Macular Edema Associate 29739359