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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54882
Gene name	Ankyrin repeat and KH domain containing 1
Gene symbol	ANKHD1
Synonyms (NCBI Gene)	MASKMASK1PP2500VBARP
Chromosome	5
Chromosome location	5q31.3
Summary	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

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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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	23142581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28072463, 28886234, 28906011, 29336067, 29999223, 30597673, 30951790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23333314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36610378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29695508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35110552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29695508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	29695508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16956752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16956752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16956752, 23142581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30646949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23333314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29695508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23142581, 25483783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23142581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24726915, 25483783, 28923066, 29695508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34743406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	36610378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25743185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29695508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31486844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	28072463, 28387952, 28886234, 29569295, 30597673, 31786252		★★★★★ ★☆☆☆☆ Found in Text Mining only

ANKHD1 (ankyrin repeat and KH domain containing 1)