KIF13A kinesin family member 13A [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF13Aprovided by HGNC
Official Full Name: kinesin family member 13Aprovided by HGNC
Primary source: HGNC:HGNC:14566
See related: Ensembl:ENSG00000137177 MIM:605433; AllianceGenome:HGNC:14566
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RBKIN; bA500C11.2
Summary: This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in heart (RPKM 12.6), thyroid (RPKM 10.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (17759126..17987635, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (17631379..17859810, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (17759357..17987866, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibronectin 1 derived from tumor-associated macrophages and fibroblasts promotes metastasis through the JUN pathway in hepatocellular carcinoma.
Title: Fibronectin 1 derived from tumor-associated macrophages and fibroblasts promotes metastasis through the JUN pathway in hepatocellular carcinoma.
Coordination of two kinesin superfamily motor proteins, KIF3A and KIF13A, is essential for pericellular matrix degradation by membrane-type 1 matrix metalloproteinase (MT1-MMP) in cancer cells.
Title: Coordination of two kinesin superfamily motor proteins, KIF3A and KIF13A, is essential for pericellular matrix degradation by membrane-type 1 matrix metalloproteinase (MT1-MMP) in cancer cells.
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome.
Title: Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome.
Identification of novel splicing patterns and differential gene expression in RE+/FECD- samples provides new insights and more relevant gene targets that may be protective against FECD disease in vulnerable patients with TCF4 CTG TNR expansions.
Title: Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
KIF13A-mediated endosomal trafficking modulates RhoB plasma membrane localization to control membrane blebbing and blebby amoeboid migration.
Title: KIF13A-regulated RhoB plasma membrane localization governs membrane blebbing and blebby amoeboid cell migration.
the crystal structure of a catalytically active kinesin-13 monomer (Kif2A) in complex with two bent alphabeta-tubulin heterodimers in a head-to-tail array, providing a view of these interactions, is reported.
Title: Ternary complex of Kif2A-bound tandem tubulin heterodimers represents a kinesin-13-mediated microtubule depolymerization reaction intermediate.
that KIF13A plays an important role in the transport of influenza A viral ribonucleoproteins
Title: KIF13A mediates trafficking of influenza A virus ribonucleoproteins.
KIF13A interacts and cooperates with RAB11 to generate endosomal tubules.
Title: Recycling endosome tubule morphogenesis from sorting endosomes requires the kinesin motor KIF13A.
kjh kiiou ouiy 8yt 8iy 7i9y
Title: DHTP is an allosteric inhibitor of the kinesin-13 family of microtubule depolymerases.
the kinesin-13 MCAK has an unconventional ATPase cycle adapted for microtubule depolymerization
Title: The kinesin-13 MCAK has an unconventional ATPase cycle adapted for microtubule depolymerization.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IB623 (e-PCR)
- UniSTS:69910

RH16245 (e-PCR)
- UniSTS:80150

SHGC-85690 (e-PCR)
- UniSTS:103730

STS-N32528 (e-PCR)
- UniSTS:74576

HSC232_(EPM2B-1) (e-PCR)
- UniSTS:260433

HSC239_(TCAG-20) (e-PCR)
- UniSTS:260440

SHGC-58230 (e-PCR)
- UniSTS:47207

RH120979 (e-PCR)
- UniSTS:133757

RH12679 (e-PCR)
- UniSTS:39044

RH122450 (e-PCR)
- UniSTS:135321

D6S2150 (e-PCR)
- UniSTS:66736

RH121641 (e-PCR)
- UniSTS:134323

RH142898 (e-PCR)
- UniSTS:232145

D6S2194 (e-PCR)
- UniSTS:3794

WIAF-1541 (e-PCR)
- UniSTS:47577

RH66449 (e-PCR)
- UniSTS:13534

G59909 (e-PCR)
- UniSTS:137191

RH66699 (e-PCR)
- UniSTS:69619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in plus-end-directed vesicle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle cargo loading	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: kinesin-like protein KIF13A

Names: homolog of mouse KIF13A mannose-6-phosphate receptor transporter; kinesin-like protein RBKIN

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029766.1 RefSeqGene

Range

4989..228931

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105566.3 → NP_001099036.1 kinesin-like protein KIF13A isoform b

See identical proteins and their annotated locations for NP_001099036.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b, also known as RBKIN2) that is shorter than isoform a.

Source sequence(s)

AA037612, AJ291578, AL023807, AY014404, BC062673, BC127115

Consensus CDS

CCDS54968.1

UniProtKB/TrEMBL

A0A1B0GUA8

Related

ENSP00000368103.2, ENST00000378826.6

Conserved Domains (6) summary

cd00060
Location:446 → 543

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:5 → 359

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:748 → 792

KIF1B; Kinesin protein 1B

pfam12473
Location:1215 → 1279

DUF3694; Kinesin protein

pfam16183
Location:356 → 468

Kinesin_assoc; Kinesin-associated

cl25732
Location:606 → 771

SMC_N; RecF/RecN/SMC N terminal domain
NM_001105567.3 → NP_001099037.1 kinesin-like protein KIF13A isoform c

See identical proteins and their annotated locations for NP_001099037.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (c, also known as KINESIN-13A1) that is shorter than isoform a.

Source sequence(s)

AA037612, AJ291578, AL023807, BC062673

Consensus CDS

CCDS54967.1

UniProtKB/TrEMBL

A0A1B0GUA8

Related

ENSP00000368120.2, ENST00000378843.6

Conserved Domains (6) summary

cd00060
Location:446 → 543

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:5 → 359

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:748 → 792

KIF1B; Kinesin protein 1B

pfam12473
Location:1003 → 1266

DUF3694; Kinesin protein

pfam16183
Location:356 → 468

Kinesin_assoc; Kinesin-associated

cl25732
Location:606 → 771

SMC_N; RecF/RecN/SMC N terminal domain
NM_001105568.4 → NP_001099038.1 kinesin-like protein KIF13A isoform d

See identical proteins and their annotated locations for NP_001099038.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in both the central and 3' coding regions, and also includes alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d, also known as KINESIN-13A2) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AJ291579, AL023807, AL138724, BC062673, BQ184768

Consensus CDS

CCDS47380.1

UniProtKB/TrEMBL

A0A1B0GUA8

Related

ENSP00000368091.5, ENST00000378814.9

Conserved Domains (6) summary

cd00060
Location:446 → 543

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:5 → 359

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:748 → 792

KIF1B; Kinesin protein 1B

pfam12473
Location:1003 → 1266

DUF3694; Kinesin protein

pfam16183
Location:356 → 468

Kinesin_assoc; Kinesin-associated

cl25732
Location:606 → 771

SMC_N; RecF/RecN/SMC N terminal domain
NM_001243423.2 → NP_001230352.1 kinesin-like protein KIF13A isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks several 3' exons but includes an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (e) shares the same N-terminus but has a distinct C-terminus and is significantly shorter than isoform a.

Source sequence(s)

AI080622, AL023807, BC062673

Consensus CDS

CCDS58998.1

UniProtKB/Swiss-Prot

Q9H1H9

Related

ENSP00000425453.1, ENST00000502704.2

Conserved Domains (1) summary

cl22853
Location:5 → 55

Motor_domain; Myosin and Kinesin motor domain
NM_022113.6 → NP_071396.4 kinesin-like protein KIF13A isoform a

See identical proteins and their annotated locations for NP_071396.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a, also known as RBKIN1).

Source sequence(s)

AA037612, AJ291578, AL023807, AY014403, BC062673, BG481524

Consensus CDS

CCDS47381.1

UniProtKB/Swiss-Prot

A0JP21, A0JP22, F2Z382, Q5THQ2, Q5THQ3, Q9H193, Q9H194, Q9H1H8, Q9H1H9

UniProtKB/TrEMBL

A0A1B0GUA8

Related

ENSP00000259711.6, ENST00000259711.11

Conserved Domains (6) summary

cd00060
Location:446 → 543

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:5 → 359

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:748 → 792

KIF1B; Kinesin protein 1B

pfam12473
Location:1215 → 1279

DUF3694; Kinesin protein

pfam16183
Location:356 → 468

Kinesin_assoc; Kinesin-associated

cl25732
Location:606 → 771

SMC_N; RecF/RecN/SMC N terminal domain