Seroatlas · Human Serome Atlas

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 VN

LocalizationUniProt · 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

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.

Canonical record: https://seroatlas.com/gene/ANKHD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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