ANKHD1
Ankyrin repeat and KH domain-containing protein 1
Also known as: ANKH1_HUMAN, FLJ10042, FLJ11979, FLJ14127, FLJ20288, KIAA1085, MASK, MASK1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IWZ3
- Gene
- ANKHD1
- Ensembl
- ENSG00000131503
- Chromosome
- 5
- Canonical length
- 2542 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI 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 survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
2542 residues, UniProt reviewed canonical sequence.
>Q8IWZ3|ANKHD1
1 MLTDSGGGGT SFEEDLDSVA PRSAPAGASE PPPPGGVGLG IRTVRLFGEA GPASGVGSSG
61 GGGSGSGTGG GDAALDFKLA AAVLRTGGGG GASGSDEDEV SEVESFILDQ EDLDNPVLKT
121 TSEIFLSSTA EGADLRTVDP ETQARLEALL EAAGIGKLST ADGKAFADPE VLRRLTSSVS
181 CALDEAAAAL TRMKAENSHN AGQVDTRSLA EACSDGDVNA VRKLLDEGRS VNEHTEEGES
241 LLCLACSAGY YELAQVLLAM HANVEDRGNK GDITPLMAAS SGGYLDIVKL LLLHDADVNS
301 QSATGNTALT YACAGGFVDI VKVLLNEGAN IEDHNENGHT PLMEAASAGH VEVARVLLDH
361 GAGINTHSNE FKESALTLAC YKGHLDMVRF LLEAGADQEH KTDEMHTALM EACMDGHVEV
421 ARLLLDSGAQ VNMPADSFES PLTLAACGGH VELAALLIER GANLEEVNDE GYTPLMEAAR
481 EGHEEMVALL LAQGANINAQ TEETQETALT LACCGGFSEV ADFLIKAGAD IELGCSTPLM
541 EASQEGHLEL VKYLLASGAN VHATTATGDT ALTYACENGH TDVADVLLQA GADLEHESEG
601 GRTPLMKAAR AGHLCTVQFL ISKGANVNRA TANNDHTVVS LACAGGHLAV VELLLAHGAD
661 PTHRLKDGST MLIEAAKGGH TNVVSYLLDY PNNVLSVPTT DVSQLPPPSQ DQSQVPRVPT
721 HTLAMVVPPQ EPDRTSQENS PALLGVQKGT SKQKSSSLQV ADQDLLPSFH PYQPLECIVE
781 ETEGKLNELG QRISAIEKAQ LKSLELIQGE PLNKDKIEEL KKNREEQVQK KKKILKELQK
841 VERQLQMKTQ QQFTKEYLET KGQKDTVSLH QQCSHRGVFP EGEGDGSLPE DHFSELPQVD
901 TILFKDNDVD DEQQSPPSAE QIDFVPVQPL SSPQCNFSSD LGSNGTNSLE LQKVSGNQQI
961 VGQPQIAITG HDQGLLVQEP DGLMVATPAQ TLTDTLDDLI AAVSTRVPTG SNSSSQTTEC
1021 LTPESCSQTT SNVASQSMPP VYPSVDIDAH TESNHDTALT LACAGGHEEL VSVLIARDAK
1081 IEHRDKKGFT PLILAATAGH VGVVEILLDK GGDIEAQSER TKDTPLSLAC SGGRQEVVDL
1141 LLARGANKEH RNVSDYTPLS LAASGGYVNI IKILLNAGAE INSRTGSKLG ISPLMLAAMN
1201 GHVPAVKLLL DMGSDINAQI ETNRNTALTL ACFQGRAEVV SLLLDRKANV EHRAKTGLTP
1261 LMEAASGGYA EVGRVLLDKG ADVNAPPVPS SRDTALTIAA DKGHYKFCEL LIHRGAHIDV
1321 RNKKGNTPLW LASNGGHFDV VQLLVQAGAD VDAADNRKIT PLMSAFRKGH VKVVQYLVKE
1381 VNQFPSDIEC MRYIATITDK ELLKKCHQCV ETIVKAKDQQ AAEANKNASI LLKELDLEKS
1441 REESRKQALA AKREKRKEKR KKKKEEQKRK QEEDEENKPK ENSELPEDED EEENDEDVEQ
1501 EVPIEPPSAT TTTTIGISAT SATFTNVFGK KRANVVTTPS TNRKNKKNKT KETPPTAHLI
1561 LPEQHMSLAQ QKADKNKING EPRGGGAGGN SDSDNLDSTD CNSESSSGGK SQELNFVMDV
1621 NSSKYPSLLL HSQEEKTSTA TSKTQTRLEG EVTPNSLSTS YKTVSLPLSS PNIKLNLTSP
1681 KRGQKREEGW KEVVRRSKKL SVPASVVSRI MGRGGCNITA IQDVTGAHID VDKQKDKNGE
1741 RMITIRGGTE STRYAVQLIN ALIQDPAKEL EDLIPKNHIR TPASTKSIHA NFSSGVGTTA
1801 ASSKNAFPLG APTLVTSQAT TLSTFQPANK LNKNVPTNVR SSFPVSLPLA YPHPHFALLA
1861 AQTMQQIRHP RLPMAQFGGT FSPSPNTWGP FPVRPVNPGN TNSSPKHNNT SRLPNQNGTV
1921 LPSESAGLAT ASCPITVSSV VAASQQLCVT NTRTPSSVRK QLFACVPKTS PPATVISSVT
1981 STCSSLPSVS SAPITSGQAP TTFLPASTSQ AQLSSQKMES FSAVPPTKEK VSTQDQPMAN
2041 LCTPSSTANS CSSSASNTPG APETHPSSSP TPTSSNTQEE AQPSSVSDLS PMSMPFASNS
2101 EPAPLTLTSP RMVAADNQDT SNLPQLAVPA PRVSHRMQPR GSFYSMVPNA TIHQDPQSIF
2161 VTNPVTLTPP QGPPAAVQLS SAVNIMNGSQ MHINPANKSL PPTFGPATLF NHFSSLFDSS
2221 QVPANQGWGD GPLSSRVATD ASFTVQSAFL GNSVLGHLEN MHPDNSKAPG FRPPSQRVST
2281 SPVGLPSIDP SGSSPSSSSA PLASFSGIPG TRVFLQGPAP VGTPSFNRQH FSPHPWTSAS
2341 NSSTSAPPTL GQPKGVSASQ DRKIPPPIGT ERLARIRQGG SVAQAPAGTS FVAPVGHSGI
2401 WSFGVNAVSE GLSGWSQSVM GNHPMHQQLS DPSTFSQHQP MERDDSGMVA PSNIFHQPMA
2461 SGFVDFSKGL PISMYGGTII PSHPQLADVP GGPLFNGLHN PDPAWNPMIK VIQNSTECTD
2521 AQQIWPGTWA PHIGNMHLKY VNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANKHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 70 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 70 nTPM
- skeletal muscle: 68 nTPM
- pancreas: 58 nTPM
- liver: 52 nTPM
- ovary: 50 nTPM
- skin: 48 nTPM
Single-cell type
- microglia: 209 nCPM
- choroid plexus epithelial cells: 201 nCPM
- oligodendrocytes: 189 nCPM
- astrocytes: 170 nCPM
- bergmann glia: 164 nCPM
- ependymal cells: 152 nCPM
Immune cell
- basophil: 25 nTPM
- neutrophil: 18 nTPM
- NK-cell: 16 nTPM
- plasmacytoid DC: 11 nTPM
- memory CD8 T-cell: 11 nTPM
- memory B-cell: 11 nTPM
Brain region
- white matter: 73 nTPM
- cerebellum: 71 nTPM
- choroid plexus: 65 nTPM
- basal ganglia: 62 nTPM
- thalamus: 60 nTPM
- medulla oblongata: 60 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.47
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ankyrin repeat
- K Homology domain
- K Homology domain, type 1
- K Homology domain, type 1 superfamily
- Ankyrin repeat-containing domain superfamily
- Ankyrin repeat and KH/SAM domain-containing protein
- KH domain
- Ankyrin repeat
- Ankyrin repeats (3 copies)
- Ankyrin repeat and KH domain-containing protein 1, type I K homology domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ANKHD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANKHD1 as an antibody target. Whether an autoantibody or antibody against ANKHD1 could matter depends on whether native ANKHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANKHD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ANKHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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