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Protein

Spermatogenesis associated 6-like protein

Gene

SPATA6L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis associated 6-like protein
Gene namesi
Name:SPATA6L
Synonyms:C9orf68
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25472. SPATA6L.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134880636.

Polymorphism and mutation databases

BioMutaiSPATA6L.
DMDMi68565209.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 392392Spermatogenesis associated 6-like proteinPRO_0000089704Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei260 – 2601PhosphoserineBy similarity
Modified residuei263 – 2631PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PeptideAtlasiQ8N4H0.
PRIDEiQ8N4H0.

PTM databases

iPTMnetiQ8N4H0.
PhosphoSiteiQ8N4H0.

Expressioni

Gene expression databases

BgeeiENSG00000106686.
CleanExiHS_C9orf68.
ExpressionAtlasiQ8N4H0. baseline and differential.
GenevisibleiQ8N4H0. HS.

Organism-specific databases

HPAiHPA039585.

Interactioni

Protein-protein interaction databases

BioGridi120382. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8N4H0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SPATA6 family.Curated

Phylogenomic databases

GeneTreeiENSGT00530000063821.
HOGENOMiHOG000060245.
HOVERGENiHBG056345.
InParanoidiQ8N4H0.
OMAiFPSVFPI.
OrthoDBiEOG091G06A5.
PhylomeDBiQ8N4H0.
TreeFamiTF328520.

Family and domain databases

InterProiIPR032732. SPATA6_N.
IPR027208. SPATA6L.
[Graphical view]
PANTHERiPTHR16435:SF5. PTHR16435:SF5. 1 hit.
PfamiPF14909. SPATA6. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N4H0-1) [UniParc]FASTAAdd to basket

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
MPLEVVVELQ IRAISCPGVF LPGKQDVYLG VYLMNQYLET NSFPSAFPIM
60 70 80 90 100
IQESMRFEKV FESAVDPGAV VDLLEMWDEL AYYEENTRDF LFPEPKLTPS
110 120 130 140 150
HPRRCREVLM KTALGFPGIA PKIEFSTRTA IRECVFLHRN RFLEERHESR
160 170 180 190 200
RPLSTSHEPI FPLNTIKMKL KENNLNRLPK GMQARAPSQY STRHFFQDQP
210 220 230 240 250
AQLNLGNNFK ISGGSKPPFV VRHVDSAKPF GENISEHHLR RSRRKSKFSD
260 270 280 290 300
FPFPTRRASS LDSLAANVKV IKEPDERIVL RSDSSSCLDS SQFGKSSSSK
310 320 330 340 350
QGDADFHGKA SFATYQHSTS PGPLDQPLLR ERFHPGSQST WKNIHERVCS
360 370 380 390
LLTSHRAQLH QNKEDSTSEV NYIIERPSYP LKKYSLHEQR YF
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Length:392
Mass (Da):45,058
Last modified:July 5, 2005 - v2
Checksum:iD66480A879881C9A
GO
Isoform 2 (identifier: Q8N4H0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     76-76: M → SFLARFELIQLVPPV
     144-151: EERHESRR → VDSKSWLL
     152-392: Missing.

Note: No experimental confirmation available.
Show »
Length:165
Mass (Da):19,045
Checksum:i8C44594B45531020
GO
Isoform 3 (identifier: Q8N4H0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-117: Missing.

Show »
Length:334
Mass (Da):38,348
Checksum:i45D27F898A7385FE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti171 – 1711K → R in AAH34293 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti243 – 2431R → G.1 Publication
Corresponds to variant rs10974657 [ dbSNP | Ensembl ].
VAR_053838
Natural varianti310 – 3101A → T.
Corresponds to variant rs16921613 [ dbSNP | Ensembl ].
VAR_053839

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei60 – 11758Missing in isoform 3. 1 PublicationVSP_043770Add
BLAST
Alternative sequencei76 – 761M → SFLARFELIQLVPPV in isoform 2. 1 PublicationVSP_014315
Alternative sequencei144 – 1518EERHESRR → VDSKSWLL in isoform 2. 1 PublicationVSP_014316
Alternative sequencei152 – 392241Missing in isoform 2. 1 PublicationVSP_014317Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK295831 mRNA. Translation: BAG58646.1.
AL136231 Genomic DNA. No translation available.
BC034293 mRNA. Translation: AAH34293.1.
BC036349 mRNA. No translation available.
CCDSiCCDS43785.2. [Q8N4H0-3]
RefSeqiNP_001034484.3. NM_001039395.3. [Q8N4H0-3]
XP_006716862.1. XM_006716799.3. [Q8N4H0-1]
UniGeneiHs.179615.

Genome annotation databases

EnsembliENST00000406861; ENSP00000384342; ENSG00000106686. [Q8N4H0-2]
ENST00000461761; ENSP00000418458; ENSG00000106686. [Q8N4H0-1]
ENST00000475086; ENSP00000417063; ENSG00000106686. [Q8N4H0-3]
ENST00000486047; ENSP00000417965; ENSG00000106686. [Q8N4H0-2]
GeneIDi55064.
KEGGihsa:55064.
UCSCiuc003zil.4. human. [Q8N4H0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK295831 mRNA. Translation: BAG58646.1.
AL136231 Genomic DNA. No translation available.
BC034293 mRNA. Translation: AAH34293.1.
BC036349 mRNA. No translation available.
CCDSiCCDS43785.2. [Q8N4H0-3]
RefSeqiNP_001034484.3. NM_001039395.3. [Q8N4H0-3]
XP_006716862.1. XM_006716799.3. [Q8N4H0-1]
UniGeneiHs.179615.

3D structure databases

ProteinModelPortaliQ8N4H0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120382. 3 interactions.

PTM databases

iPTMnetiQ8N4H0.
PhosphoSiteiQ8N4H0.

Polymorphism and mutation databases

BioMutaiSPATA6L.
DMDMi68565209.

Proteomic databases

PeptideAtlasiQ8N4H0.
PRIDEiQ8N4H0.

Protocols and materials databases

DNASUi55064.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000406861; ENSP00000384342; ENSG00000106686. [Q8N4H0-2]
ENST00000461761; ENSP00000418458; ENSG00000106686. [Q8N4H0-1]
ENST00000475086; ENSP00000417063; ENSG00000106686. [Q8N4H0-3]
ENST00000486047; ENSP00000417965; ENSG00000106686. [Q8N4H0-2]
GeneIDi55064.
KEGGihsa:55064.
UCSCiuc003zil.4. human. [Q8N4H0-1]

Organism-specific databases

CTDi55064.
GeneCardsiSPATA6L.
HGNCiHGNC:25472. SPATA6L.
HPAiHPA039585.
neXtProtiNX_Q8N4H0.
PharmGKBiPA134880636.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063821.
HOGENOMiHOG000060245.
HOVERGENiHBG056345.
InParanoidiQ8N4H0.
OMAiFPSVFPI.
OrthoDBiEOG091G06A5.
PhylomeDBiQ8N4H0.
TreeFamiTF328520.

Miscellaneous databases

ChiTaRSiSPATA6L. human.
GenomeRNAii55064.
PROiQ8N4H0.

Gene expression databases

BgeeiENSG00000106686.
CleanExiHS_C9orf68.
ExpressionAtlasiQ8N4H0. baseline and differential.
GenevisibleiQ8N4H0. HS.

Family and domain databases

InterProiIPR032732. SPATA6_N.
IPR027208. SPATA6L.
[Graphical view]
PANTHERiPTHR16435:SF5. PTHR16435:SF5. 1 hit.
PfamiPF14909. SPATA6. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPA6L_HUMAN
AccessioniPrimary (citable) accession number: Q8N4H0
Secondary accession number(s): B4DIY4, Q5JVJ5, Q8IY90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: September 7, 2016
This is version 97 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.