Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54882
Gene name Gene Name - the full gene name approved by the HGNC.	Ankyrin repeat and KH domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANKHD1
Synonyms (NCBI Gene) Gene synonyms aliases	MASK, MASK1, PP2500, VBARP
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survi

Show/Hide all(121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045336	hsa-miR-185-5p	CLASH	23622248
MIRT044414	hsa-miR-320a	CLASH	23622248
MIRT044414	hsa-miR-320a	CLASH	23622248
MIRT042445	hsa-miR-424-5p	CLASH	23622248
MIRT782140	hsa-miR-1277	CLIP-seq
MIRT782141	hsa-miR-221	CLIP-seq
MIRT782142	hsa-miR-222	CLIP-seq
MIRT782143	hsa-miR-23a	CLIP-seq
MIRT782144	hsa-miR-23b	CLIP-seq
MIRT782145	hsa-miR-23c	CLIP-seq
MIRT782146	hsa-miR-323-3p	CLIP-seq
MIRT782147	hsa-miR-3647-3p	CLIP-seq
MIRT782148	hsa-miR-374c	CLIP-seq
MIRT782149	hsa-miR-3919	CLIP-seq
MIRT782150	hsa-miR-425	CLIP-seq
MIRT782151	hsa-miR-4282	CLIP-seq
MIRT782152	hsa-miR-4438	CLIP-seq
MIRT782153	hsa-miR-4490	CLIP-seq
MIRT782154	hsa-miR-4639-5p	CLIP-seq
MIRT782155	hsa-miR-4732-5p	CLIP-seq
MIRT782156	hsa-miR-4756-3p	CLIP-seq
MIRT782157	hsa-miR-4774-5p	CLIP-seq
MIRT782158	hsa-miR-4778-5p	CLIP-seq
MIRT782159	hsa-miR-5095	CLIP-seq
MIRT782160	hsa-miR-513a-3p	CLIP-seq
MIRT782161	hsa-miR-655	CLIP-seq
MIRT782140	hsa-miR-1277	CLIP-seq
MIRT782141	hsa-miR-221	CLIP-seq
MIRT782142	hsa-miR-222	CLIP-seq
MIRT782143	hsa-miR-23a	CLIP-seq
MIRT782144	hsa-miR-23b	CLIP-seq
MIRT782145	hsa-miR-23c	CLIP-seq
MIRT782146	hsa-miR-323-3p	CLIP-seq
MIRT782148	hsa-miR-374c	CLIP-seq
MIRT1930826	hsa-miR-380	CLIP-seq
MIRT782150	hsa-miR-425	CLIP-seq
MIRT782152	hsa-miR-4438	CLIP-seq
MIRT1930827	hsa-miR-4699-3p	CLIP-seq
MIRT782155	hsa-miR-4732-5p	CLIP-seq
MIRT782159	hsa-miR-5095	CLIP-seq
MIRT782161	hsa-miR-655	CLIP-seq
MIRT1930828	hsa-miR-888	CLIP-seq
MIRT2171412	hsa-miR-1236	CLIP-seq
MIRT782140	hsa-miR-1277	CLIP-seq
MIRT782141	hsa-miR-221	CLIP-seq
MIRT782142	hsa-miR-222	CLIP-seq
MIRT782143	hsa-miR-23a	CLIP-seq
MIRT782144	hsa-miR-23b	CLIP-seq
MIRT782145	hsa-miR-23c	CLIP-seq
MIRT2171413	hsa-miR-300	CLIP-seq
MIRT2171414	hsa-miR-30a	CLIP-seq
MIRT2171415	hsa-miR-30b	CLIP-seq
MIRT2171416	hsa-miR-30c	CLIP-seq
MIRT2171417	hsa-miR-30d	CLIP-seq
MIRT2171418	hsa-miR-30e	CLIP-seq
MIRT2171419	hsa-miR-3129-3p	CLIP-seq
MIRT2171420	hsa-miR-3182	CLIP-seq
MIRT782146	hsa-miR-323-3p	CLIP-seq
MIRT782148	hsa-miR-374c	CLIP-seq
MIRT1930826	hsa-miR-380	CLIP-seq
MIRT2171421	hsa-miR-381	CLIP-seq
MIRT782150	hsa-miR-425	CLIP-seq
MIRT782152	hsa-miR-4438	CLIP-seq
MIRT2171422	hsa-miR-4495	CLIP-seq
MIRT2171423	hsa-miR-4666-5p	CLIP-seq
MIRT1930827	hsa-miR-4699-3p	CLIP-seq
MIRT782155	hsa-miR-4732-5p	CLIP-seq
MIRT2171424	hsa-miR-4753-3p	CLIP-seq
MIRT2171425	hsa-miR-4789-5p	CLIP-seq
MIRT782159	hsa-miR-5095	CLIP-seq
MIRT2171426	hsa-miR-544	CLIP-seq
MIRT782161	hsa-miR-655	CLIP-seq
MIRT1930828	hsa-miR-888	CLIP-seq
MIRT2171412	hsa-miR-1236	CLIP-seq
MIRT2474393	hsa-miR-125a-3p	CLIP-seq
MIRT2474394	hsa-miR-297	CLIP-seq
MIRT2171413	hsa-miR-300	CLIP-seq
MIRT2171419	hsa-miR-3129-3p	CLIP-seq
MIRT2474395	hsa-miR-3165	CLIP-seq
MIRT2171420	hsa-miR-3182	CLIP-seq
MIRT2474396	hsa-miR-3686	CLIP-seq
MIRT1930826	hsa-miR-380	CLIP-seq
MIRT2171421	hsa-miR-381	CLIP-seq
MIRT782149	hsa-miR-3919	CLIP-seq
MIRT2474397	hsa-miR-3925-5p	CLIP-seq
MIRT2474398	hsa-miR-3934	CLIP-seq
MIRT2474399	hsa-miR-3974	CLIP-seq
MIRT2474400	hsa-miR-4307	CLIP-seq
MIRT2474401	hsa-miR-4662a-5p	CLIP-seq
MIRT2474402	hsa-miR-4698	CLIP-seq
MIRT2474403	hsa-miR-4742-3p	CLIP-seq
MIRT2171424	hsa-miR-4753-3p	CLIP-seq
MIRT782158	hsa-miR-4778-5p	CLIP-seq
MIRT2474404	hsa-miR-4803	CLIP-seq
MIRT2474405	hsa-miR-494	CLIP-seq
MIRT2171426	hsa-miR-544	CLIP-seq
MIRT2474406	hsa-miR-567	CLIP-seq
MIRT2474407	hsa-miR-630	CLIP-seq
MIRT2474408	hsa-miR-764	CLIP-seq
MIRT2171412	hsa-miR-1236	CLIP-seq
MIRT2474394	hsa-miR-297	CLIP-seq
MIRT2171413	hsa-miR-300	CLIP-seq
MIRT2171419	hsa-miR-3129-3p	CLIP-seq
MIRT2171420	hsa-miR-3182	CLIP-seq
MIRT2474396	hsa-miR-3686	CLIP-seq
MIRT1930826	hsa-miR-380	CLIP-seq
MIRT2171421	hsa-miR-381	CLIP-seq
MIRT782149	hsa-miR-3919	CLIP-seq
MIRT2474397	hsa-miR-3925-5p	CLIP-seq
MIRT2474399	hsa-miR-3974	CLIP-seq
MIRT2474400	hsa-miR-4307	CLIP-seq
MIRT2474401	hsa-miR-4662a-5p	CLIP-seq
MIRT2474402	hsa-miR-4698	CLIP-seq
MIRT2474403	hsa-miR-4742-3p	CLIP-seq
MIRT2171424	hsa-miR-4753-3p	CLIP-seq
MIRT782158	hsa-miR-4778-5p	CLIP-seq
MIRT2474404	hsa-miR-4803	CLIP-seq
MIRT2474405	hsa-miR-494	CLIP-seq
MIRT2171426	hsa-miR-544	CLIP-seq
MIRT2474406	hsa-miR-567	CLIP-seq
MIRT2474407	hsa-miR-630	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	14743216, 21988832, 27812135, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0045087	Process	Innate immune response	IBA

MIM	HGNC	e!Ensembl
610500	24714	ENSG00000131503

Protein

UniProt ID

Q8IWZ3

Protein name

Ankyrin repeat and KH domain-containing protein 1 (HIV-1 Vpr-binding ankyrin repeat protein) (Multiple ankyrin repeats single KH domain) (hMASK)

Protein function

May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	209 → 302	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	295 → 368	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	363 → 435	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	434 → 501	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	499 → 565	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	539 → 631	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	628 → 697	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1039 → 1118	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1115 → 1185	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	1156 → 1210		Repeat
PF12796	Ank_2	1194 → 1287	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	1296 → 1388	Ankyrin repeats (3 copies)	Repeat
PF00013	KH_1	1697 → 1761	KH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain. {ECO:0000

Sequence

MLTDSGGGGTSFEEDLDSVAPRSAPAGASEPPPPGGVGLGIRTVRLFGEAGPASGVGSSG
GGGSGSGTGGGDAALDFKLAAAVLRTGGGGGASGSDEDEVSEVESFILDQEDLDNPVLKT
TSEIFLSSTAEGADLRTVDPETQARLEALLEAAGIGKLSTADGKAFADPEVLRRLTSSVS
CALDEAAAALTRMKAENSHNAGQVDTRSLAEACSDGDVNAVRKLLDEGRSVNEHTEEGES
LLCLACSAGYYELAQVLLAMHANVEDRGNKGDITPLMAASSGGYLDIVKLLLLHDADVNS
QSATGNTALTYACAGGFVDIVKVLLNEGANIEDHNENGHTPLMEAASAGHVEVARVLLDH
GAGINTHSNEFKESALTLACYKGHLDMVRFLLEAGADQEHKTDEMHTALMEACMDGHVEV
ARLLLDSGAQVNMPADSFESPLTLAACGGHVELAALLIERGANLEEVNDEGYTPLMEAAR
EGHEEMVALLLAQGANINAQTEETQETALTLACCGGFSEVADFLIKAGADIELGCSTPLM
EASQEGHLELVKYLLASGANVHATTATGDTALTYACENGHTDVADVLLQAGADLEHESEG
GRTPLMKAARAGHLCTVQFLISKGANVNRATANNDHTVVSLACAGGHLAVVELLLAHGAD
PTHRLKDGSTMLIEAAKGGHTNVVSYLLDYPNNVLSVPTTDVSQLPPPSQDQSQVPRVPT
HTLAMVVPPQEPDRTSQENSPALLGVQKGTSKQKSSSLQVADQDLLPSFHPYQPLECIVE
ETEGKLNELGQRISAIEKAQLKSLELIQGEPLNKDKIEELKKNREEQVQKKKKILKELQK
VERQLQMKTQQQFTKEYLETKGQKDTVSLHQQCSHRGVFPEGEGDGSLPEDHFSELPQVD
TILFKDNDVDDEQQSPPSAEQIDFVPVQPLSSPQCNFSSDLGSNGTNSLELQKVSGNQQI
VGQPQIAITGHDQGLLVQEPDGLMVATPAQTLTDTLDDLIAAVSTRVPTGSNSSSQTTEC
LTPESCSQTTSNVASQSMPPVYPSVDIDAHTESNHDTALTLACAGGHEELVSVLIARDAK
IEHRDKKGFTPLILAATAGHVGVVEILLDKGGDIEAQSERTKDTPLSLACSGGRQEVVDL
LLARGANKEHRNVSDYTPLSLAASGGYVNIIKILLNAGAEINSRTGSKLGISPLMLAAMN
GHVPAVKLLLDMGSDINAQIETNRNTALTLACFQGRAEVVSLLLDRKANVEHRAKTGLTP
LMEAASGGYAEVGRVLLDKGADVNAPPVPSSRDTALTIAADKGHYKFCELLIHRGAHIDV
RNKKGNTPLWLASNGGHFDVVQLLVQAGADVDAADNRKITPLMSAFRKGHVKVVQYLVKE
VNQFPSDIECMRYIATITDKELLKKCHQCVETIVKAKDQQAAEANKNASILLKELDLEKS
REESRKQALAAKREKRKEKRKKKKEEQKRKQEEDEENKPKENSELPEDEDEEENDEDVEQ
EVPIEPPSATTTTTIGISATSATFTNVFGKKRANVVTTPSTNRKNKKNKTKETPPTAHLI
LPEQHMSLAQQKADKNKINGEPRGGGAGGNSDSDNLDSTDCNSESSSGGKSQELNFVMDV
NSSKYPSLLLHSQEEKTSTATSKTQTRLEGEVTPNSLSTSYKTVSLPLSSPNIKLNLTSP
KRGQKREEGWKEVVRRSKKLSVPASVVSRIMGRGGCNITAIQDVTGAHIDVDKQKDKNGE
RMITIRGGTESTRYAVQLINALIQDPAKELEDLIPKNHIRTPASTKSIHANFSSGVGTTA
ASSKNAFPLGAPTLVTSQATTLSTFQPANKLNKNVPTNVRSSFPVSLPLAYPHPHFALLA
AQTMQQIRHPRLPMAQFGGTFSPSPNTWGPFPVRPVNPGNTNSSPKHNNTSRLPNQNGTV
LPSESAGLATASCPITVSSVVAASQQLCVTNTRTPSSVRKQLFACVPKTSPPATVISSVT
STCSSLPSVSSAPITSGQAPTTFLPASTSQAQLSSQKMESFSAVPPTKEKVSTQDQPMAN
LCTPSSTANSCSSSASNTPGAPETHPSSSPTPTSSNTQEEAQPSSVSDLSPMSMPFASNS
EPAPLTLTSPRMVAADNQDTSNLPQLAVPAPRVSHRMQPRGSFYSMVPNATIHQDPQSIF
VTNPVTLTPPQGPPAAVQLSSAVNIMNGSQMHINPANKSLPPTFGPATLFNHFSSLFDSS
QVPANQGWGDGPLSSRVATDASFTVQSAFLGNSVLGHLENMHPDNSKAPGFRPPSQRVST
SPVGLPSIDPSGSSPSSSSAPLASFSGIPGTRVFLQGPAPVGTPSFNRQHFSPHPWTSAS
NSSTSAPPTLGQPKGVSASQDRKIPPPIGTERLARIRQGGSVAQAPAGTSFVAPVGHSGI
WSFGVNAVSEGLSGWSQSVMGNHPMHQQLSDPSTFSQHQPMERDDSGMVAPSNIFHQPMA
SGFVDFSKGLPISMYGGTIIPSHPQLADVPGGPLFNGLHNPDPAWNPMIKVIQNSTECTD
AQQIWPGTWAPHIGNMHLKYVN

Sequence length

2542

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Bipolar Disorder	Bipolar disorder, Bipolar I disorder	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	36610378
Carcinoma Renal Cell	Associate	29695508
Colorectal Neoplasms	Associate	35110552
Kidney Neoplasms	Associate	29695508
Leukemia	Associate	16956752
Leukemia Myeloid Acute	Associate	16956752, 23142581
Multiple Myeloma	Associate	23142581
Neoplasms	Associate	29695508
Pancreatic Neoplasms	Associate	34743406
Pancreatitis Chronic	Associate	36610378

ANKHD1 (ankyrin repeat and KH domain containing 1)