UniProtKB - Q8NCR6 (SMRP1_HUMAN)
Protein
Spermatid-specific manchette-related protein 1
Gene
SMRP1
Organism
Homo sapiens (Human)
Status
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
- alpha-tubulin binding Source: Ensembl
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- cellular protein-containing complex assembly Source: Ensembl
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Biological process | Differentiation, Spermatogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: Spermatid-specific manchette-related protein 1Alternative name(s): Ciliated bronchial epithelial protein 1 Testis development protein NYD-SP22 |
Gene namesi | Name:SMRP1 Synonyms:C9orf24, CBE1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19919 C9orf24 |
neXtProti | NX_Q8NCR6 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Nucleus
- Nucleus 1 Publication
Other locations
- Cytoplasm 1 Publication
Note: Localizes to the manchette in elongating spermatids (By similarity). Predominantly perinuclear in bronchial epithelial cells but also detected in the nucleus in some primary epithelial cells and in a number of cell lines.By similarity
Cytoskeleton
- manchette Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 223 – 224 | RR → AA: Predominantly cytoplasmic rather than nuclear localization. 1 Publication | 2 |
Organism-specific databases
OpenTargetsi | ENSG00000164972 |
PharmGKBi | PA134950467 |
Miscellaneous databases
Pharosi | Q8NCR6 |
Polymorphism and mutation databases
BioMutai | C9orf24 |
DMDMi | 156630925 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000296258 | 1 – 262 | Spermatid-specific manchette-related protein 1Add BLAST | 262 |
Proteomic databases
MassIVEi | Q8NCR6 |
PaxDbi | Q8NCR6 |
PeptideAtlasi | Q8NCR6 |
PRIDEi | Q8NCR6 |
ProteomicsDBi | 72928 [Q8NCR6-1] 72929 [Q8NCR6-2] 72930 [Q8NCR6-3] 72931 [Q8NCR6-4] 72932 [Q8NCR6-5] |
PTM databases
iPTMneti | Q8NCR6 |
PhosphoSitePlusi | Q8NCR6 |
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
Bgeei | ENSG00000164972 Expressed in 133 organ(s), highest expression level in bronchial epithelial cell |
ExpressionAtlasi | Q8NCR6 baseline and differential |
Genevisiblei | Q8NCR6 HS |
Organism-specific databases
HPAi | HPA053008 |
Interactioni
Subunit structurei
Interacts with alpha-tubulin.
By similarityBinary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
Q93062 | 3 | EBI-10269322,EBI-740322 |
GO - Molecular functioni
- alpha-tubulin binding Source: Ensembl
Protein-protein interaction databases
BioGridi | 124203, 11 interactors |
IntActi | Q8NCR6, 31 interactors |
STRINGi | 9606.ENSP00000297623 |
Family & Domainsi
Sequence similaritiesi
Belongs to the SMRP1 family.Curated
Phylogenomic databases
eggNOGi | ENOG410IJMT Eukaryota ENOG41119UP LUCA |
GeneTreei | ENSGT00390000000945 |
HOGENOMi | HOG000111634 |
InParanoidi | Q8NCR6 |
KOi | K18634 |
OMAi | GHPYFPE |
OrthoDBi | 942401at2759 |
PhylomeDBi | Q8NCR6 |
TreeFami | TF335656 |
Family and domain databases
InterProi | View protein in InterPro IPR028195 SMRP1 |
PANTHERi | PTHR35664 PTHR35664, 1 hit |
Pfami | View protein in Pfam PF15181 SMRP1, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NCR6-1) [UniParc]FASTAAdd to basket
Also known as: NYD-SP22 v1
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y454 | H0Y454_HUMAN | Chromosome 9 open reading frame 24 | C9orf24 | 126 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 3 (identifier: Q8NCR6-3) | |||||
Sequence conflicti | 61 | C → Y in AAK53410 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034626 | 233 | P → Q1 PublicationCorresponds to variant dbSNP:rs17852663Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027169 | 1 – 135 | Missing in isoform 2, isoform 3, isoform 4 and isoform 5. 3 PublicationsAdd BLAST | 135 | |
Alternative sequenceiVSP_027170 | 186 – 262 | DPLPG…PISEP → PPYEHRPGMQCAVTTPPPSY YPYPNLRWDTSHFKKSGGPQ RNNYVIHPEFVSETYPDYRC W in isoform 3. 1 PublicationAdd BLAST | 77 | |
Alternative sequenceiVSP_027171 | 235 – 262 | MCTSL…PISEP → VRFAGLRPPQPGSTPHKPRP RTPPPSSPASFRAGPQPALA PRCTLSRPCRVPPSGSKA in isoform 2. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_042861 | 235 – 262 | MCTSL…PISEP → VRCVPPYEHRPGMQCAVTTP PPSYYPYPNLRWDTSHFKKS GGPQRNNYVIHPEFVSETYP DYRCW in isoform 4. 1 PublicationAdd BLAST | 28 |
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 |
CCDSi | CCDS59121.1 [Q8NCR6-4] CCDS6553.1 [Q8NCR6-3] CCDS6554.1 [Q8NCR6-1] CCDS6555.1 [Q8NCR6-5] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000297623; ENSP00000297623; ENSG00000164972 [Q8NCR6-1] ENST00000379124; ENSP00000368419; ENSG00000164972 [Q8NCR6-4] ENST00000379126; ENSP00000368421; ENSG00000164972 [Q8NCR6-3] ENST00000379127; ENSP00000368422; ENSG00000164972 [Q8NCR6-4] ENST00000379133; ENSP00000368428; ENSG00000164972 [Q8NCR6-5] |
GeneIDi | 84688 |
KEGGi | hsa:84688 |
UCSCi | uc003zuf.3 human [Q8NCR6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 No translation available. BC022084 mRNA Translation: AAH22084.1 BC029484 mRNA Translation: AAH29484.1 |
CCDSi | CCDS59121.1 [Q8NCR6-4] CCDS6553.1 [Q8NCR6-3] CCDS6554.1 [Q8NCR6-1] CCDS6555.1 [Q8NCR6-5] |
RefSeqi | NP_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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 124203, 11 interactors |
IntActi | Q8NCR6, 31 interactors |
STRINGi | 9606.ENSP00000297623 |
PTM databases
iPTMneti | Q8NCR6 |
PhosphoSitePlusi | Q8NCR6 |
Polymorphism and mutation databases
BioMutai | C9orf24 |
DMDMi | 156630925 |
Proteomic databases
MassIVEi | Q8NCR6 |
PaxDbi | Q8NCR6 |
PeptideAtlasi | Q8NCR6 |
PRIDEi | Q8NCR6 |
ProteomicsDBi | 72928 [Q8NCR6-1] 72929 [Q8NCR6-2] 72930 [Q8NCR6-3] 72931 [Q8NCR6-4] 72932 [Q8NCR6-5] |
Protocols and materials databases
DNASUi | 84688 |
Genome annotation databases
Ensembli | ENST00000297623; ENSP00000297623; ENSG00000164972 [Q8NCR6-1] ENST00000379124; ENSP00000368419; ENSG00000164972 [Q8NCR6-4] ENST00000379126; ENSP00000368421; ENSG00000164972 [Q8NCR6-3] ENST00000379127; ENSP00000368422; ENSG00000164972 [Q8NCR6-4] ENST00000379133; ENSP00000368428; ENSG00000164972 [Q8NCR6-5] |
GeneIDi | 84688 |
KEGGi | hsa:84688 |
UCSCi | uc003zuf.3 human [Q8NCR6-1] |
Organism-specific databases
CTDi | 84688 |
GeneCardsi | C9orf24 |
HGNCi | HGNC:19919 C9orf24 |
HPAi | HPA053008 |
neXtProti | NX_Q8NCR6 |
OpenTargetsi | ENSG00000164972 |
PharmGKBi | PA134950467 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IJMT Eukaryota ENOG41119UP LUCA |
GeneTreei | ENSGT00390000000945 |
HOGENOMi | HOG000111634 |
InParanoidi | Q8NCR6 |
KOi | K18634 |
OMAi | GHPYFPE |
OrthoDBi | 942401at2759 |
PhylomeDBi | Q8NCR6 |
TreeFami | TF335656 |
Miscellaneous databases
ChiTaRSi | C9orf24 human |
GenomeRNAii | 84688 |
Pharosi | Q8NCR6 |
PROi | PR:Q8NCR6 |
Gene expression databases
Bgeei | ENSG00000164972 Expressed in 133 organ(s), highest expression level in bronchial epithelial cell |
ExpressionAtlasi | Q8NCR6 baseline and differential |
Genevisiblei | Q8NCR6 HS |
Family and domain databases
InterProi | View protein in InterPro IPR028195 SMRP1 |
PANTHERi | PTHR35664 PTHR35664, 1 hit |
Pfami | View protein in Pfam PF15181 SMRP1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SMRP1_HUMAN | |
Accessioni | Q8NCR6Primary (citable) accession number: Q8NCR6 Secondary accession number(s): Q5T598 Q96LN1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 24, 2007 |
Last sequence update: | July 24, 2007 | |
Last modified: | October 16, 2019 | |
This is version 118 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations