Seroatlas · Human Serome Atlas

ANKS1B

Ankyrin repeat and sterile alpha motif domain-containing protein 1B

Also known as: AIDA-1, ANKS2, ANS1B_HUMAN, cajalin-2, EB-1

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

Protein identityUniProt · HPA

UniProt accession: Q7Z6G8
Gene: ANKS1B
Ensembl: ENSG00000185046
Chromosome: 12
Canonical length: 1248 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane

OverviewNCBI Gene

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1248 residues, UniProt reviewed canonical sequence.

>Q7Z6G8|ANKS1B
     1  MGKDQELLEA ARTGNVALVE KLLSGRKGGI LGGGSGPLPL SNLLSIWRGP NVNCTDSSGY
    61  TALHHAALNG HKDIVLKLLQ YEASTNVADN KGYFPIHLAA WKGDVEIVKI LIHHGPSHSR
   121  VNEQNNENET ALHCAAQYGH SEVVAVLLEE LTDPTIRNSK LETPLDLAAL YGRLRVVKMI
   181  ISAHPNLMSC NTRKHTPLHL AARNGHKAVV QVLLEAGMDV SCQTEKGSAL HEAALFGKVD
   241  VVRVLLETGI DANIKDSLGR TVLDILKEHP SQKSLQIATL LQEYLEGVGR STVLEEPVQE
   301  DATQETHISS PVESPSQKTK SETVTGELSK LLDEIKLCQE KDYSFEDLCH TISDHYLDNL
   361  SKISEEELGK NGSQSVRTSS TINLSPGEVE EEDDDENTCG PSGLWEALTP CNGCRNLGFP
   421  MLAQESYPKK RNYTMEIVPS ASLDTFPSEN ENFLCDLMDT AVTKKPCSLE IARAPSPRTD
   481  NASEVAVTTP GTSNHRNSST GPTPDCSPPS PDTALKNIVK VIRPQPKQRT SIVSSLDFHR
   541  MNHNQEYFEI NTSTGCTSFT ASPPASPPTS SVGTTEVKNE GTNHTDDLSR QDDNDPPKEY
   601  DPGQFAGLLH GSSPACESPE NPFHLYGKRE QCEKGQDEVS LANSPLPFKQ SPIENNSEPL
   661  VKKIKPKVVS RTIFHKKSNQ LENHTIVGTR STRSGSRNGD QWVMNAGGFV ERACTLGRIR
   721  SLPKALIDMH LSKSVSKSDS DLIAYPSNEK TSRVNWSESS TAEHSSKGNS ERTPSFTSEW
   781  EEIDKIMSSI DVGINNELKE MNGETTRPRC PVQTVGQWLE SIGLPQYENH LMANGFDNVQ
   841  FMGSNVMEDQ DLLEIGILNS GHRQRILQAI QLLPKMRPIG HDGYHPTSVA EWLDSIELGD
   901  YTKAFLINGY TSMDLLKKIW EVELINVLKI NLIGHRKRIL ASLGDRLHDD PPQKPPRSIT
   961  LREPSGNHTP PQLSPSLSQS TYTTGGSLDV PHIIMQGDAR RRRNENYFDD IPRSKLERQM
  1021  AQTGDWGEPS ITLRPPNEAT ASTPVQYWQH HPEKLIFQSC DYKAFYLGSM LIKELRGTES
  1081  TQDACAKMRA NCQKSTEQMK KVPTIILSVS YKGVKFIDAT NKNIIAEHEI RNISCAAQDP
  1141  EDLSTFAYIT KDLKSNHHYC HVFTAFDVNL AYEIILTLGQ AFEVAYQLAL QARKGGHSST
  1201  LPESFENKPS KPIPKPRVSI RKSVDLLHAS HTGQEPSERH TEEALRKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKS1B 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: 66 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 66 nTPM
cerebral cortex: 61 nTPM
spinal cord: 57 nTPM
hippocampal formation: 57 nTPM
amygdala: 42 nTPM
midbrain: 38 nTPM

Single-cell type

brain inhibitory neurons: 2,617 nCPM
oligodendrocyte progenitor cells: 2,402 nCPM
brain excitatory neurons: 2,345 nCPM
other brain neurons: 1,284 nCPM
oligodendrocytes: 1,226 nCPM
retinal amacrine cells: 1,087 nCPM

Immune cell

T-reg: 4.3 nTPM
basophil: 3.5 nTPM
neutrophil: 1.9 nTPM
non-classical monocyte: 1.6 nTPM
NK-cell: 1.4 nTPM
memory CD4 T-cell: 1.3 nTPM

Brain region

cerebral cortex: 306 nTPM
white matter: 303 nTPM
basal ganglia: 284 nTPM
cerebellum: 245 nTPM
hippocampal formation: 243 nTPM
amygdala: 217 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKS1B.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 160 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ANKS1B-related disorder

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): 0.22
gnomAD pLI: 1
gnomAD missense Z: 2.95
DepMap mean gene effect: 0.09
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

ephrin receptor signaling pathway

Molecular functions

ephrin receptor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ANKS1B 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 ANKS1B as an antibody target. Whether an autoantibody or antibody against ANKS1B could matter depends on whether native ANKS1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKS1B 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 ANKS1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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