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Protein

Spermatid-specific manchette-related protein 1

Gene

SMRP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells.By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Differentiation, Spermatogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164972-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatid-specific manchette-related protein 1
Alternative name(s):
Ciliated bronchial epithelial protein 1
Testis development protein NYD-SP22
Gene namesi
Name:SMRP1
Synonyms:C9orf24, CBE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19919. C9orf24.

Subcellular locationi

GO - Cellular componenti

  • manchette Source: UniProtKB
  • nucleus Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi223 – 224RR → AA: Predominantly cytoplasmic rather than nuclear localization. 1 Publication2

Organism-specific databases

OpenTargetsiENSG00000164972.
PharmGKBiPA134950467.

Polymorphism and mutation databases

BioMutaiSMRP1.
DMDMi156630925.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002962581 – 262Spermatid-specific manchette-related protein 1Add BLAST262

Proteomic databases

PaxDbiQ8NCR6.
PeptideAtlasiQ8NCR6.
PRIDEiQ8NCR6.

PTM databases

iPTMnetiQ8NCR6.
PhosphoSitePlusiQ8NCR6.

Expressioni

Tissue specificityi

Expressed in epithelial cells of nasal polyps and in intact epithelium of bronchial biopsies from subjects with and without asthma. Strong expression in columnar cells with little or no expression in basal epithelial cells along the basement membrane. Strongly expressed in ciliated epithelial cells with lower levels in goblet cells (at protein level).1 Publication

Developmental stagei

Expressed during in vitro differentiation of bronchial epithelial cells. In fetal lung, expression is barely detectable at 10 weeks post-conception but is strong in airway epithelium at 12.3 weeks post-conception.2 Publications

Inductioni

Down-regulated by IL13.1 Publication

Gene expression databases

BgeeiENSG00000164972.
CleanExiHS_C9orf24.
ExpressionAtlasiQ8NCR6. baseline and differential.
GenevisibleiQ8NCR6. HS.

Organism-specific databases

HPAiHPA053008.

Interactioni

Subunit structurei

Interacts with alpha-tubulin.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
RBPMSQ930623EBI-10269322,EBI-740322

Protein-protein interaction databases

BioGridi124203. 11 interactors.
IntActiQ8NCR6. 2 interactors.
STRINGi9606.ENSP00000297623.

Structurei

3D structure databases

ProteinModelPortaliQ8NCR6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SMRP1 family.Curated

Phylogenomic databases

eggNOGiENOG410IJMT. Eukaryota.
ENOG41119UP. LUCA.
GeneTreeiENSGT00390000000945.
HOGENOMiHOG000111634.
HOVERGENiHBG095599.
InParanoidiQ8NCR6.
KOiK18634.
OMAiCAWEANK.
OrthoDBiEOG091G0G5D.
PhylomeDBiQ8NCR6.
TreeFamiTF335656.

Family and domain databases

InterProiIPR028195. SMRP1.
[Graphical view]
PfamiPF15181. SMRP1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCR6-1) [UniParc]FASTAAdd to basket
Also known as: NYD-SP22 v1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFLFSRKTRT PISTYSDSYR APTSIKEVYK DPPLCAWEAN KFLTPGLTHT
60 70 80 90 100
MERHVDPEAL QKMAKCAVQD YTYRGSISGH PYLPEKYWLS QEEADKCSPN
110 120 130 140 150
YLGSDWYNTW RMEPYNSSCC NKYTTYLPRL PKEARMETAV RGMPLECPPR
160 170 180 190 200
PERLNAYERE VMVNMLNSLS RNQQLPRITP RCGCVDPLPG RLPFHGYESA
210 220 230 240 250
CSGRHYCLRG MDYYASGAPC TDRRLRPWCR EQPTMCTSLR APARNAVCCY
260
NSPAVILPIS EP
Length:262
Mass (Da):30,167
Last modified:July 24, 2007 - v2
Checksum:i6F1FA3A06401BFEB
GO
Isoform 2 (identifier: Q8NCR6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.
     235-262: MCTSLRAPARNAVCCYNSPAVILPISEP → VRFAGLRPPQ...CRVPPSGSKA

Note: No experimental confirmation available.
Show »
Length:157
Mass (Da):17,443
Checksum:i01256E368A91D5C3
GO
Isoform 3 (identifier: Q8NCR6-3) [UniParc]FASTAAdd to basket
Also known as: NYD-SP22 v3

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.
     186-262: DPLPGRLPFH...PAVILPISEP → PPYEHRPGMQ...SETYPDYRCW

Note: No experimental confirmation available.Curated
Show »
Length:111
Mass (Da):13,000
Checksum:i875663781A719057
GO
Isoform 4 (identifier: Q8NCR6-4) [UniParc]FASTAAdd to basket
Also known as: CBE1 ORF2

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.
     235-262: MCTSLRAPARNAVCCYNSPAVILPISEP → VRCVPPYEHR...SETYPDYRCW

Show »
Length:164
Mass (Da):19,084
Checksum:i0F82B309386160F9
GO
Isoform 5 (identifier: Q8NCR6-5) [UniParc]FASTAAdd to basket
Also known as: CBE1 ORF1, NYD-SP22 v2

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.

Show »
Length:127
Mass (Da):14,344
Checksum:i993040B6142E6B41
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 3 (identifier: Q8NCR6-3)
Sequence conflicti61C → Y in AAK53410 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034626233P → Q.1 PublicationCorresponds to variant rs17852663dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0271691 – 135Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 3 PublicationsAdd BLAST135
Alternative sequenceiVSP_027170186 – 262DPLPG…PISEP → PPYEHRPGMQCAVTTPPPSY YPYPNLRWDTSHFKKSGGPQ RNNYVIHPEFVSETYPDYRC W in isoform 3. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_027171235 – 262MCTSL…PISEP → VRFAGLRPPQPGSTPHKPRP RTPPPSSPASFRAGPQPALA PRCTLSRPCRVPPSGSKA in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_042861235 – 262MCTSL…PISEP → VRCVPPYEHRPGMQCAVTTP PPSYYPYPNLRWDTSHFKKS GGPQRNNYVIHPEFVSETYP DYRCW in isoform 4. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF367474 mRNA. Translation: AAK53410.1.
AK058087 mRNA. Translation: BAB71657.1.
AK094751 mRNA. Translation: BAC04412.1.
AL356494 Genomic DNA. Translation: CAI15976.1.
AL356494 Genomic DNA. Translation: CAI15977.1.
AL356494 Genomic DNA. Translation: CAI15978.1.
AL356494 Genomic DNA. Translation: CAI15979.1.
BC022084 mRNA. Translation: AAH22084.1.
BC029484 mRNA. Translation: AAH29484.1.
CCDSiCCDS59121.1. [Q8NCR6-4]
CCDS6553.1. [Q8NCR6-3]
CCDS6554.1. [Q8NCR6-1]
CCDS6555.1. [Q8NCR6-5]
RefSeqiNP_001239124.1. NM_001252195.1. [Q8NCR6-4]
NP_115985.2. NM_032596.3. [Q8NCR6-1]
NP_671697.1. NM_147168.1. [Q8NCR6-5]
NP_671698.1. NM_147169.2. [Q8NCR6-3]
XP_005251675.1. XM_005251618.4. [Q8NCR6-4]
XP_011516357.1. XM_011518055.2. [Q8NCR6-4]
UniGeneiHs.50334.

Genome annotation databases

EnsembliENST00000297623; ENSP00000297623; ENSG00000164972. [Q8NCR6-1]
ENST00000379124; ENSP00000368419; ENSG00000164972. [Q8NCR6-4]
ENST00000379126; ENSP00000368421; ENSG00000164972. [Q8NCR6-3]
ENST00000379127; ENSP00000368422; ENSG00000164972. [Q8NCR6-4]
ENST00000379133; ENSP00000368428; ENSG00000164972. [Q8NCR6-5]
GeneIDi84688.
KEGGihsa:84688.
UCSCiuc003zuf.3. human. [Q8NCR6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF367474 mRNA. Translation: AAK53410.1.
AK058087 mRNA. Translation: BAB71657.1.
AK094751 mRNA. Translation: BAC04412.1.
AL356494 Genomic DNA. Translation: CAI15976.1.
AL356494 Genomic DNA. Translation: CAI15977.1.
AL356494 Genomic DNA. Translation: CAI15978.1.
AL356494 Genomic DNA. Translation: CAI15979.1.
BC022084 mRNA. Translation: AAH22084.1.
BC029484 mRNA. Translation: AAH29484.1.
CCDSiCCDS59121.1. [Q8NCR6-4]
CCDS6553.1. [Q8NCR6-3]
CCDS6554.1. [Q8NCR6-1]
CCDS6555.1. [Q8NCR6-5]
RefSeqiNP_001239124.1. NM_001252195.1. [Q8NCR6-4]
NP_115985.2. NM_032596.3. [Q8NCR6-1]
NP_671697.1. NM_147168.1. [Q8NCR6-5]
NP_671698.1. NM_147169.2. [Q8NCR6-3]
XP_005251675.1. XM_005251618.4. [Q8NCR6-4]
XP_011516357.1. XM_011518055.2. [Q8NCR6-4]
UniGeneiHs.50334.

3D structure databases

ProteinModelPortaliQ8NCR6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124203. 11 interactors.
IntActiQ8NCR6. 2 interactors.
STRINGi9606.ENSP00000297623.

PTM databases

iPTMnetiQ8NCR6.
PhosphoSitePlusiQ8NCR6.

Polymorphism and mutation databases

BioMutaiSMRP1.
DMDMi156630925.

Proteomic databases

PaxDbiQ8NCR6.
PeptideAtlasiQ8NCR6.
PRIDEiQ8NCR6.

Protocols and materials databases

DNASUi84688.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297623; ENSP00000297623; ENSG00000164972. [Q8NCR6-1]
ENST00000379124; ENSP00000368419; ENSG00000164972. [Q8NCR6-4]
ENST00000379126; ENSP00000368421; ENSG00000164972. [Q8NCR6-3]
ENST00000379127; ENSP00000368422; ENSG00000164972. [Q8NCR6-4]
ENST00000379133; ENSP00000368428; ENSG00000164972. [Q8NCR6-5]
GeneIDi84688.
KEGGihsa:84688.
UCSCiuc003zuf.3. human. [Q8NCR6-1]

Organism-specific databases

CTDi84688.
GeneCardsiC9orf24.
HGNCiHGNC:19919. C9orf24.
HPAiHPA053008.
neXtProtiNX_Q8NCR6.
OpenTargetsiENSG00000164972.
PharmGKBiPA134950467.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJMT. Eukaryota.
ENOG41119UP. LUCA.
GeneTreeiENSGT00390000000945.
HOGENOMiHOG000111634.
HOVERGENiHBG095599.
InParanoidiQ8NCR6.
KOiK18634.
OMAiCAWEANK.
OrthoDBiEOG091G0G5D.
PhylomeDBiQ8NCR6.
TreeFamiTF335656.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164972-MONOMER.

Miscellaneous databases

GenomeRNAii84688.
PROiQ8NCR6.

Gene expression databases

BgeeiENSG00000164972.
CleanExiHS_C9orf24.
ExpressionAtlasiQ8NCR6. baseline and differential.
GenevisibleiQ8NCR6. HS.

Family and domain databases

InterProiIPR028195. SMRP1.
[Graphical view]
PfamiPF15181. SMRP1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMRP1_HUMAN
AccessioniPrimary (citable) accession number: Q8NCR6
Secondary accession number(s): Q5T598
, Q5T599, Q5T5A0, Q8N9G4, Q96KD1, Q96LN1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: November 30, 2016
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.