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Protein

SUN domain-containing protein 5

Gene

SUN5

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

Functioni

Plays an essential role in anchoring sperm head to the tail. Is responsible for the attachment of the coupling apparatus to the sperm nuclear envelope.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
SUN domain-containing protein 5
Alternative name(s):
Sad1 and UNC84 domain-containing protein 5
Sperm-associated antigen 4-like protein
Testis and spermatogenesis-related gene 4 protein
Gene namesi
Name:SUN5
Synonyms:SPAG4L, TSARG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000167098.11
HGNCiHGNC:16252 SUN5
MIMi613942 gene
neXtProtiNX_Q8TC36

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 105NuclearSequence analysisAdd BLAST105
Transmembranei106 – 122HelicalSequence analysisAdd BLAST17
Topological domaini123 – 379Perinuclear spaceSequence analysisAdd BLAST257

Keywords - Cellular componenti

Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 16 (SPGF16)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads.
See also OMIM:617187
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077983114G → R in SPGF16; loss of protein expression; impaired localization to nuclear inner membrane. 2 Publications1
Natural variantiVAR_080157159 – 379Missing in SPGF16; in mouse model abolishes interaction with DNAJB13. 1 PublicationAdd BLAST221
Natural variantiVAR_077984162M → K in SPGF16; unknown pathological significance; in mouse model increases interaction with DNAJB13; impaired localization to nuclear inner membrane. 2 PublicationsCorresponds to variant dbSNP:rs886041023Ensembl.1
Natural variantiVAR_077985261V → M in SPGF16; unknown pathological significance; in mouse model decreases protein solubility as well as impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs886041024Ensembl.1
Natural variantiVAR_077986275T → M in SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13. 3 PublicationsCorresponds to variant dbSNP:rs756459525Ensembl.1
Natural variantiVAR_080158284 – 379Missing in SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13. 2 PublicationsAdd BLAST96
Natural variantiVAR_077987348N → I in SPGF16; loss of protein expression; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs758335571Ensembl.1
Natural variantiVAR_077988356R → C in SPGF16; unknown pathological significance; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs754130052Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiSUN5
MIMi617187 phenotype
OpenTargetsiENSG00000167098
PharmGKBiPA38095

Polymorphism and mutation databases

BioMutaiSUN5
DMDMi27805720

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002189191 – 379SUN domain-containing protein 5Add BLAST379

Post-translational modificationi

Highly glycosylated in the Golgi apparatus during spermiogenesis.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8TC36
PeptideAtlasiQ8TC36
PRIDEiQ8TC36

PTM databases

iPTMnetiQ8TC36
PhosphoSitePlusiQ8TC36

Expressioni

Tissue specificityi

Sperm (at protein level) (PubMed:27640305). Widely expressed (PubMed:12621555). Conflictingly shown to be specifically expressed in testis (PubMed:21711156).3 Publications

Gene expression databases

BgeeiENSG00000167098
CleanExiHS_SPAG4L
ExpressionAtlasiQ8TC36 baseline and differential
GenevisibleiQ8TC36 HS

Organism-specific databases

HPAiHPA048529

Interactioni

Subunit structurei

Probable homotrimer. Interacts with DNAJB13.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1266783 interactors.
IntActiQ8TC36 1 interactor.
STRINGi9606.ENSP00000348496

Structurei

3D structure databases

ProteinModelPortaliQ8TC36
SMRiQ8TC36
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini205 – 364SUNPROSITE-ProRule annotationAdd BLAST160

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili141 – 182Sequence analysisAdd BLAST42

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2687 Eukaryota
ENOG410YM6S LUCA
GeneTreeiENSGT00390000011587
HOGENOMiHOG000007503
HOVERGENiHBG055206
InParanoidiQ8TC36
KOiK21876
OMAiLWNYAQP
OrthoDBiEOG091G0AZ8
PhylomeDBiQ8TC36
TreeFamiTF323915

Family and domain databases

Gene3Di2.60.120.2601 hit
InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR030273 SUN5
IPR012919 SUN_dom
PANTHERiPTHR12911:SF19 PTHR12911:SF19, 1 hit
PfamiView protein in Pfam
PF07738 Sad1_UNC, 1 hit
PROSITEiView protein in PROSITE
PS51469 SUN, 1 hit

Sequencei

Sequence statusi: Complete.

Q8TC36-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPRSSRSPGD PGALLEDVAH NPRPRRIAQR GRNTSRMAED TSPNMNDNIL
60 70 80 90 100
LPVRNNDQAL GLTQCMLGCV SWFTCFACSL RTQAQQVLFN TCRCKLLCQK
110 120 130 140 150
LMEKTGILLL CAFGFWMFSI HLPSKMKVWQ DDSINGPLQS LRLYQEKVRH
160 170 180 190 200
HSGEIQDLRG SMNQLIAKLQ EMEAMSDEQK MAQKIMKMIH GDYIEKPDFA
210 220 230 240 250
LKSIGASIDF EHTSVTYNHE KAHSYWNWIQ LWNYAQPPDV ILEPNVTPGN
260 270 280 290 300
CWAFEGDRGQ VTIQLAQKVY LSNLTLQHIP KTISLSGSLD TAPKDFVIYG
310 320 330 340 350
MEGSPKEEVF LGAFQFQPEN IIQMFPLQNQ PARAFSAVKV KISSNWGNPG
360 370
FTCLYRVRVH GSVAPPREQP HQNPYPKRD
Length:379
Mass (Da):43,081
Last modified:June 1, 2002 - v1
Checksum:i0FAE87B1CC1DBCDF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01514716E → K. Corresponds to variant dbSNP:rs3746387Ensembl.1
Natural variantiVAR_02667739E → D. Corresponds to variant dbSNP:rs1133358Ensembl.1
Natural variantiVAR_077983114G → R in SPGF16; loss of protein expression; impaired localization to nuclear inner membrane. 2 Publications1
Natural variantiVAR_052285120I → V. Corresponds to variant dbSNP:rs35216976Ensembl.1
Natural variantiVAR_080157159 – 379Missing in SPGF16; in mouse model abolishes interaction with DNAJB13. 1 PublicationAdd BLAST221
Natural variantiVAR_077984162M → K in SPGF16; unknown pathological significance; in mouse model increases interaction with DNAJB13; impaired localization to nuclear inner membrane. 2 PublicationsCorresponds to variant dbSNP:rs886041023Ensembl.1
Natural variantiVAR_026678174A → T. Corresponds to variant dbSNP:rs17123951Ensembl.1
Natural variantiVAR_077985261V → M in SPGF16; unknown pathological significance; in mouse model decreases protein solubility as well as impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs886041024Ensembl.1
Natural variantiVAR_077986275T → M in SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13. 3 PublicationsCorresponds to variant dbSNP:rs756459525Ensembl.1
Natural variantiVAR_080158284 – 379Missing in SPGF16; significant reduction in protein expression; impaired localization to nuclear inner membrane; in mouse model decreases interaction with DNAJB13. 2 PublicationsAdd BLAST96
Natural variantiVAR_077987348N → I in SPGF16; loss of protein expression; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs758335571Ensembl.1
Natural variantiVAR_077988356R → C in SPGF16; unknown pathological significance; in mouse model impairs nuclear inner membrane location and decreases interaction with DNAJB13. 2 PublicationsCorresponds to variant dbSNP:rs754130052Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF401350 mRNA Translation: AAM90665.1
AL139826 Genomic DNA No translation available.
AL121756 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76343.1
BC026118 mRNA Translation: AAH26118.1
BC029528 mRNA Translation: AAH29528.1
CCDSiCCDS13209.1
RefSeqiNP_542406.2, NM_080675.3
UniGeneiHs.375186

Genome annotation databases

EnsembliENST00000356173; ENSP00000348496; ENSG00000167098
GeneIDi140732
KEGGihsa:140732
UCSCiuc002wyi.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSUN5_HUMAN
AccessioniPrimary (citable) accession number: Q8TC36
Secondary accession number(s): A6NJ82, Q5T9R0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: June 1, 2002
Last modified: April 25, 2018
This is version 122 of the entry and version 1 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