KIF1B kinesin family member 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF1Bprovided by HGNC
Official Full Name: kinesin family member 1Bprovided by HGNC
Primary source: HGNC:HGNC:16636
See related: Ensembl:ENSG00000054523 MIM:605995; AllianceGenome:HGNC:16636
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: KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1
Summary: Predicted to enable microtubule binding activity and plus-end-directed microtubule motor activity. Predicted to be involved in chemical synaptic transmission; dense core granule cytoskeletal transport; and vesicle-mediated transport. Predicted to act upstream of or within mitochondrion transport along microtubule. Predicted to be located in cytoplasmic vesicle membrane and neuron projection. Predicted to be part of kinesin complex. Predicted to be active in several cellular components, including axon; dendrite; and microtubule. Implicated in Charcot-Marie-Tooth disease type 2A1; carcinoma (multiple); multiple sclerosis; neuroblastoma; and pheochromocytoma. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 28.3), testis (RPKM 7.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 52

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (10210570..10381603)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9754179..9925204)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10270628..10441661)

Chromosome 1 - NC_000001.11 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?

USP9X promotes apoptosis in cholangiocarcinoma by modulation expression of KIF1Bbeta via deubiquitinating EGLN3.
Title: USP9X promotes apoptosis in cholangiocarcinoma by modulation expression of KIF1Bβ via deubiquitinating EGLN3.
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
Title: Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
The Kif1bbeta and Fignl1 loss of function similarly altered zebrafish motor axon pathfinding and increased dynein-based transport velocity of Rab3 vesicles in these navigating axons, pinpointing Fignl1/Kif1bbeta as a dynein speed limiter complex.
Title: FIGNL1 associates with KIF1Bβ and BICD1 to restrict dynein transport velocity during axon navigation.
associations of single nucleotide polymorphisms of KIF1B gene with the severity of clinical manifestations of multiple sclerosis
Title: [Associations of single nucleotide polymorphisms of KIF1B gene with the severity of clinical manifestations of multiple sclerosis].
The authors' findings indicate that tumor suppressor KIF1Bbeta plays an important role in intrinsic mitochondria-mediated apoptosis through the regulation of structural and functional dynamics of mitochondria in collaboration with YME1L1.
Title: Tumor suppressor KIF1Bβ regulates mitochondrial apoptosis in collaboration with YME1L1.
results revealed a significant association between KIF1B rs17401966 polymorphism and susceptibility to HCC under a random-effect allelic model
Title: Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis.
In conclusion, using a panel including 17 susceptibility genes, we documented the presence of somatic mutations in over 50% of pheochromocytomas and paragangliomas (PPGL). We confirmed the high frequency of NF1 somatic mutations and identified KIF1B as the second most frequently mutated gene in PPGL tissues.
Title: KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors.
The rs17401966 polymorphism reduced the risk for HCC under the allele, heterozygous, homozygous, and dominant models but not under the additive or recessive models.
Title: Meta-analysis of the correlation between the rs17401966 polymorphism in kinesin family member 1B and susceptibility to hepatitis B virus related hepatocellular carcinoma.
BORC and Arl8 function upstream of two structurally distinct kinesin types: kinesin-1 (KIF5B) and kinesin-3 (KIF1Bbeta and KIF1A).
Title: BORC Functions Upstream of Kinesins 1 and 3 to Coordinate Regional Movement of Lysosomes along Different Microtubule Tracks.
The gene-environment interaction between the KIF1B rs17401966 variant and alcohol consumption may contribute to the development of hepatocellular carcinoma in Chinese individuals.
Title: Effects of interactions between environmental factors and KIF1B genetic variants on the risk of hepatocellular carcinoma in a Chinese cohort.

Submit: New GeneRIF Correction See all GeneRIFs (46)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 2A1 MedGen: C1861678 OMIM: 118210 GeneReviews: MFN2 Hereditary Motor and Sensory Neuropathy	Compare labs
Neuroblastoma, susceptibility to, 1 MedGen: C2749485 OMIM: 256700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65603 (e-PCR)
- UniSTS:225538

KIF1B__6513 (e-PCR)
- UniSTS:468490

RH94028 (e-PCR)
- UniSTS:90634

SHGC-105813 (e-PCR)
- UniSTS:169488

SHGC-31453 (e-PCR)
- UniSTS:1041

SHGC-30747 (e-PCR)
- UniSTS:1298

RH94196 (e-PCR)
- UniSTS:89627

G34822 (e-PCR)
- UniSTS:69661

G63359 (e-PCR)
- UniSTS:140325

D8S2279 (e-PCR)
- UniSTS:473907

AL009478 (e-PCR)
- UniSTS:3644

RH80337 (e-PCR)
- UniSTS:92487

SHGC-2554 (e-PCR)
- UniSTS:35173

D1S2021E (e-PCR)
- UniSTS:151408

AL034246 (e-PCR)
- UniSTS:94065

G54045 (e-PCR)
- UniSTS:109427

G35510 (e-PCR)
- UniSTS:44150

D1S1768E (e-PCR)
- UniSTS:9866

G42181 (e-PCR)
- UniSTS:105099

RH79628 (e-PCR)
- UniSTS:84385

SHGC-63507 (e-PCR)
- UniSTS:95399

D1S2187 (e-PCR)
- UniSTS:76722

STS-T76997 (e-PCR)
- UniSTS:57556

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 kinesin binding	TAS Traceable Author Statement more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables plus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables plus-end-directed 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 anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron-neuron synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
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
part_of microtubule associated complex	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kinesin-like protein KIF1B

Names: Charcot-Marie-Tooth neuropathy type II; kinesin superfamily protein KIF1B

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_008069.1 RefSeqGene

Range

4865..175898

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_252

mRNA and Protein(s)

NM_001365951.3 → NP_001352880.1 kinesin-like protein KIF1B isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c). Variants 3 and 4 both encode the same isoform (c).

Source sequence(s)

AL139424, AL358013

Consensus CDS

CCDS90858.1

UniProtKB/Swiss-Prot

A6NFS8, A6NKQ4, O60333, Q4VXC3, Q4VXC4, Q4VXC5, Q4VXC6, Q96Q94, Q9BV80, Q9P280

UniProtKB/TrEMBL

Q4R9M9

Related

ENSP00000502065.1, ENST00000676179.1

Conserved Domains (7) summary

cd00060
Location:532 → 636

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 ...

cd01233
Location:1697 → 1799

PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain

cd01365
Location:4 → 361

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:845 → 892

KIF1B; Kinesin protein 1B

pfam12473
Location:1266 → 1413

DUF3694; Kinesin protein

pfam16183
Location:358 → 555

Kinesin_assoc; Kinesin-associated

cl09111
Location:662 → 717

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_001365952.1 → NP_001352881.1 kinesin-like protein KIF1B isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.

Source sequence(s)

AL139424, AL358013

Consensus CDS

CCDS90858.1

UniProtKB/Swiss-Prot

A6NFS8, A6NKQ4, O60333, Q4VXC3, Q4VXC4, Q4VXC5, Q4VXC6, Q96Q94, Q9BV80, Q9P280

UniProtKB/TrEMBL

Q4R9M9

Related

ENSP00000366290.1, ENST00000377086.5

Conserved Domains (7) summary

cd00060
Location:532 → 636

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 ...

cd01233
Location:1697 → 1799

PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain

cd01365
Location:4 → 361

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam12423
Location:845 → 892

KIF1B; Kinesin protein 1B

pfam12473
Location:1266 → 1413

DUF3694; Kinesin protein

pfam16183
Location:358 → 555

Kinesin_assoc; Kinesin-associated

cl09111
Location:662 → 717

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_001365953.1 → NP_001352882.1 kinesin-like protein KIF1B isoform alpha

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 2, encodes isoform alpha.

Source sequence(s)

AL358013

Consensus CDS

CCDS112.1

Related

ENSP00000366287.1, ENST00000377083.5

Conserved Domains (3) summary

cd00060
Location:486 → 590

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:4 → 355

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam16183
Location:352 → 509

Kinesin_assoc; Kinesin-associated
NM_015074.3 → NP_055889.2 kinesin-like protein KIF1B isoform b

See identical proteins and their annotated locations for NP_055889.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform b, also called KIF1b-beta.

Source sequence(s)

AA609163, AB017133, AB040881, AF257176, AK025761, BP239973, DA113609, DA485632, DA774937

Consensus CDS

CCDS111.1

UniProtKB/TrEMBL

A0A8Q3WLB3, A0A8Q3WM94

Related

ENSP00000263934.6, ENST00000263934.10

Conserved Domains (9) summary

smart00129
Location:5 → 355

KISc; Kinesin motor, catalytic domain. ATPase

cd00060
Location:486 → 590

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 ...

cd01233
Location:1651 → 1753

PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain

cd01365
Location:4 → 355

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam00169
Location:1656 → 1749

PH; PH domain

pfam12423
Location:799 → 846

KIF1B; Kinesin protein 1B

pfam12473
Location:1267 → 1367

DUF3694; Kinesin protein

pfam16183
Location:352 → 509

Kinesin_assoc; Kinesin-associated

cl09111
Location:616 → 671

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
NM_183416.4 → NP_904325.2 kinesin-like protein KIF1B isoform alpha

See identical proteins and their annotated locations for NP_904325.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a different segment for its 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform alpha) has a shorter and distinct C-terminus compared to isoform b.

Source sequence(s)

AB040881, AL358013, BF940695, BU626971, DA774937

Consensus CDS

CCDS112.1

UniProtKB/Swiss-Prot

O60333

Related

ENSP00000366297.4, ENST00000377093.9

Conserved Domains (3) summary

cd00060
Location:486 → 590

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:4 → 355

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam16183
Location:352 → 509

Kinesin_assoc; Kinesin-associated