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Protein

Spermatid-specific manchette-related protein 1

Gene

SMRP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation, Spermatogenesis

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

EuPathDBiHostDB:ENSG00000164972.12
HGNCiHGNC:19919 C9orf24
neXtProtiNX_Q8NCR6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi72928
72929 [Q8NCR6-2]
72930 [Q8NCR6-3]
72931 [Q8NCR6-4]
72932 [Q8NCR6-5]

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124203, 11 interactors
IntActiQ8NCR6, 24 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
OMAiKYTTCLP
OrthoDBiEOG091G0G5D
PhylomeDBiQ8NCR6
TreeFamiTF335656

Family and domain databases

InterProiView protein in InterPro
IPR028195 SMRP1
PANTHERiPTHR35664 PTHR35664, 1 hit
PfamiView protein in Pfam
PF15181 SMRP1, 1 hit

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 → Q1 PublicationCorresponds to variant dbSNP:rs17852663Ensembl.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiSMRP1_HUMAN
AccessioniPrimary (citable) accession number: Q8NCR6
Secondary accession number(s): Q5T598
, Q5T599, Q5T5A0, Q8N9G4, Q96KD1, Q96LN1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: June 20, 2018
This is version 109 of the entry and version 2 of the sequence. See 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

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