KATNBL1 katanin regulatory subunit B1 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KATNBL1provided by HGNC
Official Full Name: katanin regulatory subunit B1 like 1provided by HGNC
Primary source: HGNC:HGNC:26199
See related: Ensembl:ENSG00000134152 MIM:616235; AllianceGenome:HGNC:26199
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C15orf29
Summary: Predicted to enable microtubule binding activity. Involved in positive regulation of cytoskeleton organization. Located in several cellular components, including cleavage furrow; mitotic spindle pole; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta (RPKM 6.9), esophagus (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (34140674..34210096, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (31938913..32008344, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (34432875..34502297, complement)

Chromosome 15 - NC_000015.10 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?

Data indicate that KATNBL1 functions as a regulator of Katanin A subunit microtubule-severing activity during mitosis and that it likely coordinates with KATNB1 to perform this function.
Title: Proteomic Analysis of the Mammalian Katanin Family of Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1 (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

WI-11840 (e-PCR)
- UniSTS:575

G31549 (e-PCR)
- UniSTS:75644

GDB:335751 (e-PCR)
- UniSTS:156601

RH45749 (e-PCR)
- UniSTS:7146

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic microtubule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cleavage furrow	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of katanin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of katanin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule cytoskeleton	NAS Non-traceable Author Statement more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in mitotic spindle pole	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: KATNB1-like protein 1

Names: katanin p80 subunit B-like 1

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.

mRNA and Protein(s)

NM_024713.3 → NP_078989.1 KATNB1-like protein 1

See identical proteins and their annotated locations for NP_078989.1

Status: VALIDATED

Source sequence(s)

AK311338, AL136908, BC026234, BM831547, BX389537

Consensus CDS

CCDS10034.1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670

Related

ENSP00000256544.3, ENST00000256544.8

Conserved Domains (1) summary

pfam13925
Location:153 → 296

Katanin_con80; con80 domain of Katanin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

34140674..34210096 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022575.3 → XP_016878064.1 KATNB1-like protein 1 isoform X3

UniProtKB/TrEMBL

B4DNG1
XM_047433041.1 → XP_047288997.1 KATNB1-like protein 1 isoform X3
XM_017022571.3 → XP_016878060.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670

Conserved Domains (1) summary

pfam13925
Location:153 → 296

Katanin_con80; con80 domain of Katanin
XM_047433037.1 → XP_047288993.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670
XM_047433036.1 → XP_047288992.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670
XM_017022574.2 → XP_016878063.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670

Conserved Domains (1) summary

pfam13925
Location:153 → 296

Katanin_con80; con80 domain of Katanin
XM_047433038.1 → XP_047288994.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670
XM_017022573.3 → XP_016878062.1 KATNB1-like protein 1 isoform X1

UniProtKB/Swiss-Prot

A8KAF6, Q2TAC0, Q9H079, Q9H670

Conserved Domains (1) summary

pfam13925
Location:153 → 296

Katanin_con80; con80 domain of Katanin
XM_005254668.5 → XP_005254725.1 KATNB1-like protein 1 isoform X2

See identical proteins and their annotated locations for XP_005254725.1

Conserved Domains (1) summary

pfam13925
Location:153 → 296

Katanin_con80; con80 domain of Katanin
XM_047433040.1 → XP_047288996.1 KATNB1-like protein 1 isoform X2