ANKS1B - ankyrin repeat and sterile alpha motif domain containing 1B Gene

Also Known as EB1; AIDA; EB-1; ANKS2; AIDA-1; cajalin-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56899

About ANKS1B

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,734,786-99,984,936 (from NCBI)

This gene has 35 transcripts (splice variants), 244 orthologues and 1 paralogue. Broad expression in brain (RPKM 8.0), thyroid (RPKM 1.1) and 21 other tissues.

Summary

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]

ANKS1B Products (52)

mRNA Protein Name
NM_001204065.2 NP_001190994.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d
NM_001204066.2 NP_001190995.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform e
NM_001204067.2 NP_001190996.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform f
NM_001204068.2 NP_001190997.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform g
NM_001204069.2 NP_001190998.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h
NM_001204070.2 NP_001190999.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform i
NM_001204079.2 NP_001191008.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform j
NM_001204080.2 NP_001191009.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k
NM_001204081.2 NP_001191010.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l
NM_001352185.1 NP_001339114.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform p
NM_001352186.2 NP_001339115.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform m
NM_001352187.1 NP_001339116.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform o
NM_001352188.1 NP_001339117.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform n
NM_001352189.1 NP_001339118.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform v
NM_001352190.1 NP_001339119.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform qq
NM_001352191.2 NP_001339120.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ee
NM_001352192.2 NP_001339121.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform z
NM_001352193.2 NP_001339122.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform y
NM_001352194.2 NP_001339123.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform cc
NM_001352195.2 NP_001339124.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform r
NM_001352196.2 NP_001339125.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s
NM_001352197.2 NP_001339126.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w
NM_001352198.2 NP_001339127.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform q
NM_001352199.2 NP_001339128.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform aa
NM_001352200.2 NP_001339129.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform u
NM_001352201.2 NP_001339130.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform dd
NM_001352202.2 NP_001339131.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform pp
NM_001352203.2 NP_001339132.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform bb
NM_001352204.2 NP_001339133.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform t
NM_001352205.2 NP_001339134.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform oo
NM_001352206.2 NP_001339135.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform x
NM_001352207.2 NP_001339136.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k
NM_001352208.2 NP_001339137.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg
NM_001352209.2 NP_001339138.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii
NM_001352210.2 NP_001339139.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform kk
NM_001352211.2 NP_001339140.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352212.2 NP_001339141.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352213.2 NP_001339142.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352214.2 NP_001339143.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352216.2 NP_001339145.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352217.2 NP_001339146.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform mm
NM_001352218.2 NP_001339147.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352219.2 NP_001339148.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ff
NM_001352220.2 NP_001339149.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352221.2 NP_001339150.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii
NM_001352222.2 NP_001339151.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg
NM_001352223.2 NP_001339152.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh
NM_001352224.2 NP_001339153.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352225.2 NP_001339154.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform jj
NM_020140.4 NP_064525.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c
NM_152788.4 NP_690001.3 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a
NM_181670.4 NP_858056.2 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform b

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables ephrin receptor binding IPI
IPI: Inferred from physical interaction
17875921 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15862129 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKS1B Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (7 - 88)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (96 - 187)

Ank_5

Ank_5: Ankyrin repeats (many copies) (213 - 265)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (811 - 873)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (884 - 943)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (1062 - 1192)

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  • 1248 a.a.
Protein Preferred Names Protein Names

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

  • E2a-Pbx1-associated protein

Related Diseases

Diseases Alias
Leukemia

  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos
Osteogenesis Imperfecta, Type Ix

  • Osteogenesis Imperfecta Type 9

  • Osteogenesis Imperfecta Type Ix

  • OI9

  • Oi Type Ix

  • Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

  • Oi, Type Ix

  • Oi 9

  • Osteogenesis Imperfecta 9

  • Oi-Ix
Supratentorial Meningioma
Avoidant Personality Disorder

  • Anxious Personality Disorder

  • Personality Disorders
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00736 ANKS1B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ANKS1B VGNC VGNC:83492
Canis familiaris ANKS1B VGNC VGNC:37917
Rattus norvegicus ANKS1B RGD RGD:1565556
Macaca mulatta ANKS1B VGNC VGNC:69689
Mus musculus ANKS1B MGD MGI:1924781
Others ANKS1B NCBI