SPMIP6 sperm microtubule inner protein 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPMIP6provided by HGNC
Official Full Name: sperm microtubule inner protein 6provided by HGNC
Primary source: HGNC:HGNC:19919
See related: Ensembl:ENSG00000164972 MIM:619502; AllianceGenome:HGNC:19919
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: CBE1; SMRP1; C9orf24; NYD-SP22; bA573M23.4
Summary: This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression: Broad expression in brain (RPKM 5.2), testis (RPKM 5.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34379019..34397810, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34397509..34416300, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34379017..34397808, complement)

Chromosome 9 - NC_000009.12 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?

Our data strongly suggest an influence of CBE1 in ciliogenesis in spermatids due to the localization at the microtubules of the elongating spermatids, indicating a role in the intramanchette and/or intraflagellar transport mechanism.
Title: Expression of ciliated bronchial epithelium 1 during human spermatogenesis.
Chronological regulation of CBE1/Cbe1 expression during pulmonary differentiation suggests involvement in ciliogenesis, with an additional role during early lung development.
Title: Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development.
CBE1 may play an important role in the differentiation and/or function of ciliated cells in human airways
Title: Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation.

Submit: New GeneRIF Correction

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

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

RH66380 (e-PCR)
- UniSTS:90237

D9S1929 (e-PCR)
- UniSTS:41359

RH12896 (e-PCR)
- UniSTS:47512

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axonemal A tubule inner sheath	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in manchette	IBA Inferred from Biological aspect of Ancestor more info
located_in manchette	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sperm microtubule inner protein 6

Names: ciliated bronchial epithelial protein 1; ciliated bronchial epithelium 1; spermatid-specific manchette-related protein 1; testis development protein NYD-SP22

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_001252195.2 → NP_001239124.1 sperm microtubule inner protein 6 isoform 4

See identical proteins and their annotated locations for NP_001239124.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA338648, BC029484, BI561111

Consensus CDS

CCDS59121.1

UniProtKB/Swiss-Prot

Q8NCR6

Related

ENSP00000368422.1, ENST00000379127.1

Conserved Domains (1) summary

pfam15181
Location:1 → 104

SMRP1; Spermatid-specific manchette-related protein 1
NM_001410962.1 → NP_001397891.1 sperm microtubule inner protein 6 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).

Source sequence(s)

AL356494

Consensus CDS

CCDS94398.1

UniProtKB/TrEMBL

A0A8I5KRB0

Related

ENSP00000510469.1, ENST00000692548.1
NM_032596.4 → NP_115985.2 sperm microtubule inner protein 6 isoform 1

See identical proteins and their annotated locations for NP_115985.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AK058087, BC029484

Consensus CDS

CCDS6554.1

UniProtKB/Swiss-Prot

Q5T598, Q5T599, Q5T5A0, Q8N9G4, Q8NCR6, Q96KD1, Q96LN1

Related

ENSP00000297623.2, ENST00000297623.7

Conserved Domains (1) summary

pfam15181
Location:1 → 249

SMRP1; Spermatid-specific manchette-related protein 1
NM_147168.2 → NP_671697.1 sperm microtubule inner protein 6 isoform 2

See identical proteins and their annotated locations for NP_671697.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AA338648, BC029484, CB854584

Consensus CDS

CCDS6555.1

UniProtKB/Swiss-Prot

Q8NCR6

Related

ENSP00000368428.3, ENST00000379133.7

Conserved Domains (1) summary

pfam15181
Location:1 → 127

SMRP1; Spermatid-specific manchette-related protein 1
NM_147169.3 → NP_671698.1 sperm microtubule inner protein 6 isoform 3

See identical proteins and their annotated locations for NP_671698.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA338648, AF367474, BC029484

Consensus CDS

CCDS6553.1

UniProtKB/Swiss-Prot

Q8NCR6

Related

ENSP00000368421.3, ENST00000379126.7

Conserved Domains (1) summary

pfam15181
Location:1 → 56

SMRP1; Spermatid-specific manchette-related protein 1