Seroatlas · Human Serome Atlas

ANKRD31

Ankyrin repeat domain-containing protein 31

Also known as: ANR31_HUMAN, FLJ40191

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N7Z5
Gene: ANKRD31
Ensembl: ENSG00000145700
Chromosome: 5
Canonical length: 1873 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Vesicles,Centrosome

OverviewNCBI Gene

This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

1873 residues, UniProt reviewed canonical sequence.

>Q8N7Z5|ANKRD31
     1  MEEGVQAPDW DSDETVIEGS VTESDLEEKE LPWRRLLFDQ DASLKSEFSL HPDTRGMCKG
    61  MPSPEIQLGF KLREDLQEQM NKNKMMPVLS EDTILQSQDE TERNQALLQT RKNCSMFIGS
   121  FRQSGLSLNH QNIEGPEAES PEVLPHIEKE LSEGRDSPEV SLLSGTAITV SDTVAVKETS
   181  LVEPEKILAA PNTFFEPRKE VTMTMTSEET KDEESSLETF VSALESLLTS PESTQEERLF
   241  ELVSDFDRKE LMNPLSDSLS SISIPLNSWS ACHRDLLEDA KDDALPAELL EALNTLSEAK
   301  VETICHRKEG GSSLIARNEC LEVEFNTSQT NEDCTQIAET LQDPNPSGLQ TLAHQNITSC
   361  EPLSNKRNSN SVTNSSDQET ACVLRRSSRL EKLKVSRDAK YSDHMYKMPE KILPKILGCE
   421  DLTNNNSSAQ NFRMQDPALM IDGKEKNMHS ARFKNGKQIR KNEQFSGKKE KMKVNKISLH
   481  SINRRNIFGE NLVYKAALHD DADLVHHCIK KGGNVNQPSY AGWTALHEAS VGGFYRTASE
   541  LLKGGADVNI KGLYQITPLH DAVMNGHYKV AELLLLNGAD PLFRNDDGKC ALDEAKDLCM
   601  KRLLERYIPK HQKCLTSAQR SSIDPLDIED VYQHKKPKFS SKSHIWHVYN ENSNRQKLEH
   661  VKVNKGSKAS LFINKEDVYE YYQKDPKNTK FGKSKHKQST LDQIYSTGLR KGNLHNVKDP
   721  NTNVPKGIGR RKTQHKRTQV DDVDCNPRKI LAVSPSRRIN RLVTYQQHIP ETHNDLPEEL
   781  CEPSSLTLSS LRNGLDSSTE ACSVSKEKHI QNLDLSDSQE VQCLELESVD QTEAVSFPGL
   841  LLHKEIKLPV VTTDKQPHTL QEQHHVLYKS HENSNLVPKD ERFNKWENSF LSFVKENSDN
   901  DDDDDCSTSE KAITSKKVLC STGGKKHYNF KENLTNKKEM GFQQFLLSED HLSQENELKA
   961  VSLTTLPEQE AVNFSYSDNA VISEHVANYE QCIFGPSFDH SNGNPEQNSL ACMRTLLTHE
  1021  ASKLTNHVEL FKKPQDYIPR APTFLMNQTD THIVEKMAKN CDTERNYIDR DQKIIYSNEP
  1081  LSIVAHSQVI ETTKVEKRRQ NHLESETIHN IDSHSTDNMS KELANISKLS QREKKEISHK
  1141  PGMKAGRINK RNARGESQLH LAVRRGNLPL VKALIESGAD VNLNDNAGWT PLHEASNEGS
  1201  IDIIVELLKA GAKVNCENID GILPLHDAVA NNHLKAAEIL LQNGANPNQK DQKQKSALDE
  1261  ADDEKMKELL RSYGAIETVN RDESDAIVNE KIPAVRSKRH KQCFCDDGKT IDSSSLSHQE
  1321  RSRESLSVHQ TLSAILQDIE EKQEYLLEFE IRNPEDAEQY IEKMLKIKKI MDNVLAKQKA
  1381  ERDDLAKKYR VSIESFKHGA LREQLANLAA RQKSLLVVAK KQKKISLKIQ NCRNVTSLPC
  1441  LSLRKLPPRS EISSEKDSQE LTSLENLEHP QSGSLSPVSG SMQETQLSLE TWNYSQNTNI
  1501  CLNSEAVRRG EFSGNDMNSK QNGSDCTLDG FPKSRHSDGT EKNKLPSQPV AFIGQTEYSQ
  1561  KENDLTEATD KDHEFYVSSP VIGKLNISET ASVLAENAAH PSNIICDQDL SNYDPKRGNR
  1621  KTSSQQSPTG ASESLAHQGI AVLGSDTVHQ MKPYLKKSVS VVPCADDSQI SSSSGSGQQD
  1681  TIKKALNYST APKKKCIQIK DLILLGRINP GNNILEFKTQ ETTHKASILL NGKLKVESGQ
  1741  IYKNPVTWLK DLLGGNSYVT WNYAWSKVTY LGKELLRYVS EDAPILPEPN SVPQQYQPCL
  1801  PEVACLDDPV QEPNKSMFEK TKFGQGTSRE SMQSSPRYLQ INEILLISDQ EFLPCHIMDQ
  1861  HWKFCVECEE LTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKRD31 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): 0.57
Highest tissue expression: 4.6 nTPM

Expression across tissuesHPA

Tissue

testis: 4.6 nTPM
esophagus: 0.6 nTPM
cervix: 0.4 nTPM
retina: 0.3 nTPM
vagina: 0.3 nTPM
breast: 0.2 nTPM

Single-cell type

early primary spermatocytes: 244 nCPM
differentiating spermatogonia: 44 nCPM
esophageal apical cells: 35 nCPM
ependymal cells: 31 nCPM
thyrotrophs: 29 nCPM
late primary spermatocytes: 28 nCPM

Immune cell

naive CD4 T-cell: 0.3 nTPM
T-reg: 0.3 nTPM
naive CD8 T-cell: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM

Brain region

midbrain: 1 nTPM
white matter: 1 nTPM
medulla oblongata: 0.9 nTPM
spinal cord: 0.9 nTPM
basal ganglia: 0.7 nTPM
cerebral cortex: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKRD31.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 269 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic non-acquired premature ovarian failure
Inherited primary ovarian failure

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: 1.69
DepMap mean gene effect: -0.2
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

homologous chromosome pairing at meiosis
meiotic DNA double-strand break formation involved in reciprocal meiotic recombination
positive regulation of meiotic DNA double-strand break formation

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ankyrin repeat
Ankyrin repeat-containing domain superfamily
Restriction enzyme adenine methylase associated
Ankyrin repeats (3 copies)
Restriction Enzyme Adenine Methylase Associated
Ankyrin repeat domain-containing protein 31

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ANKRD31 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 ANKRD31 as an antibody target. Whether an autoantibody or antibody against ANKRD31 could matter depends on whether native ANKRD31 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKRD31 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 ANKRD31 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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