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Protein

Sec1 family domain-containing protein 1

Gene

SCFD1

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

Functioni

Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Sec1 family domain-containing protein 1
Alternative name(s):
SLY1 homolog
Short name:
Sly1p
Syntaxin-binding protein 1-like 2
Gene namesi
Name:SCFD1
Synonyms:C14orf163, KIAA0917, STXBP1L2
ORF Names:FKSG23
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20726. SCFD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134946073.

Polymorphism and mutation databases

BioMutaiSCFD1.
DMDMi51316882.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources2 Publications
Chaini2 – 642641Sec1 family domain-containing protein 1PRO_0000206287Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources1 Publication
Modified residuei37 – 371PhosphoserineBy similarity
Modified residuei303 – 3031PhosphoserineCombined sources
Modified residuei528 – 5281PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WVM8.
MaxQBiQ8WVM8.
PaxDbiQ8WVM8.
PeptideAtlasiQ8WVM8.
PRIDEiQ8WVM8.

PTM databases

iPTMnetiQ8WVM8.
PhosphoSiteiQ8WVM8.
SwissPalmiQ8WVM8.

Expressioni

Gene expression databases

BgeeiENSG00000092108.
CleanExiHS_SCFD1.
ExpressionAtlasiQ8WVM8. baseline and differential.
GenevisibleiQ8WVM8. HS.

Organism-specific databases

HPAiHPA003579.

Interactioni

Subunit structurei

Interacts with STX17. Interacts with STX5A. Interacts with the COG complex via COG4 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
COG4Q9H9E310EBI-722569,EBI-368382

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116860. 52 interactions.
IntActiQ8WVM8. 27 interactions.
MINTiMINT-1394008.
STRINGi9606.ENSP00000390783.

Structurei

3D structure databases

ProteinModelPortaliQ8WVM8.
SMRiQ8WVM8. Positions 13-152.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 1312Poly-AlaAdd
BLAST

Sequence similaritiesi

Belongs to the STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

eggNOGiKOG1301. Eukaryota.
COG5158. LUCA.
GeneTreeiENSGT00550000074845.
HOVERGENiHBG061536.
InParanoidiQ8WVM8.
KOiK19998.
OMAiVYDQYVN.
OrthoDBiEOG091G04JV.
PhylomeDBiQ8WVM8.
TreeFamiTF105740.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q8WVM8-1) [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
MAAAAAATAA AAASIRERQT VALKRMLNFN VPHIKNSTGE PVWKVLIYDR
60 70 80 90 100
FGQDIISPLL SVKELRDMGI TLHLLLHSDR DPIPDVPAVY FVMPTEENID
110 120 130 140 150
RMCQDLRNQL YESYYLNFIS AISRSKLEDI ANAALAASAV TQVAKVFDQY
160 170 180 190 200
LNFITLEDDM FVLCNQNKEL VSYRAINRPD ITDTEMETVM DTIVDSLFCF
210 220 230 240 250
FVTLGAVPII RCSRGTAAEM VAVKLDKKLR ENLRDARNSL FTGDTLGAGQ
260 270 280 290 300
FSFQRPLLVL VDRNIDLATP LHHTWTYQAL VHDVLDFHLN RVNLEESSGV
310 320 330 340 350
ENSPAGARPK RKNKKSYDLT PVDKFWQKHK GSPFPEVAES VQQELESYRA
360 370 380 390 400
QEDEVKRLKS IMGLEGEDEG AISMLSDNTA KLTSAVSSLP ELLEKKRLID
410 420 430 440 450
LHTNVATAVL EHIKARKLDV YFEYEEKIMS KTTLDKSLLD IISDPDAGTP
460 470 480 490 500
EDKMRLFLIY YISTQQAPSE ADLEQYKKAL TDAGCNLNPL QYIKQWKAFT
510 520 530 540 550
KMASAPASYG STTTKPMGLL SRVMNTGSQF VMEGVKNLVL KQQNLPVTRI
560 570 580 590 600
LDNLMEMKSN PETDDYRYFD PKMLRGNDSS VPRNKNPFQE AIVFVVGGGN
610 620 630 640
YIEYQNLVDY IKGKQGKHIL YGCSELFNAT QFIKQLSQLG QK
Length:642
Mass (Da):72,380
Last modified:January 23, 2007 - v4
Checksum:i0340FB9F05CD24CE
GO
Isoform 2 (identifier: Q8WVM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.

Show »
Length:550
Mass (Da):62,260
Checksum:iB920BFF92CE3533B
GO
Isoform 3 (identifier: Q8WVM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.

Show »
Length:575
Mass (Da):65,061
Checksum:iD661C294F7170C05
GO

Sequence cautioni

The sequence AAD40381 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence AAD48586 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence AAP97146 differs from that shown. Reason: Frameshift at position 5. Curated
The sequence BAA74940 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti42 – 421V → I in AAG50273 (Ref. 3) Curated
Sequence conflicti136 – 1372AA → EL in AAD40381 (Ref. 2) Curated
Sequence conflicti201 – 2066FVTLGA → YGTRGD in AAD48586 (Ref. 2) Curated
Sequence conflicti201 – 2022FV → YG in AAD40381 (Ref. 2) Curated
Sequence conflicti201 – 2022FV → YG in AAP97146 (Ref. 4) Curated
Sequence conflicti206 – 2061A → D in AAP97146 (Ref. 4) Curated
Sequence conflicti453 – 4531K → N in AAD48586 (Ref. 2) Curated
Sequence conflicti484 – 4852GC → EM in AAD40381 (Ref. 2) Curated
Sequence conflicti485 – 4851Missing in AAD48586 (Ref. 2) Curated
Sequence conflicti562 – 5632ET → KL in AAD40381 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631K → R.2 Publications
Corresponds to variant rs229150 [ dbSNP | Ensembl ].
VAR_019616

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9292Missing in isoform 2. 1 PublicationVSP_047070Add
BLAST
Alternative sequencei1 – 6767Missing in isoform 3. 1 PublicationVSP_047071Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020724 mRNA. Translation: BAA74940.2. Different initiation.
AF092139 mRNA. Translation: AAD40381.1. Frameshift.
AF110646 mRNA. Translation: AAD48586.1. Frameshift.
AF319958 mRNA. Translation: AAG50273.1.
AF086916 mRNA. Translation: AAP97146.1. Frameshift.
AK290410 mRNA. Translation: BAF83099.1.
AK298622 mRNA. Translation: BAH12830.1.
AK297873 mRNA. Translation: BAH12683.1.
AK316212 mRNA. Translation: BAH14583.1.
AL121852 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65968.1.
BC017734 mRNA. Translation: AAH17734.1.
AF067205 mRNA. Translation: AAC17907.1.
CCDSiCCDS45092.1. [Q8WVM8-3]
CCDS58308.1. [Q8WVM8-2]
CCDS9639.1. [Q8WVM8-1]
RefSeqiNP_001244305.1. NM_001257376.1. [Q8WVM8-2]
NP_001269961.1. NM_001283032.1.
NP_057190.2. NM_016106.3. [Q8WVM8-1]
NP_878255.1. NM_182835.2. [Q8WVM8-3]
UniGeneiHs.369168.

Genome annotation databases

EnsembliENST00000396629; ENSP00000379870; ENSG00000092108. [Q8WVM8-2]
ENST00000458591; ENSP00000390783; ENSG00000092108. [Q8WVM8-1]
ENST00000544052; ENSP00000443010; ENSG00000092108. [Q8WVM8-3]
GeneIDi23256.
KEGGihsa:23256.
UCSCiuc001wqm.3. human. [Q8WVM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020724 mRNA. Translation: BAA74940.2. Different initiation.
AF092139 mRNA. Translation: AAD40381.1. Frameshift.
AF110646 mRNA. Translation: AAD48586.1. Frameshift.
AF319958 mRNA. Translation: AAG50273.1.
AF086916 mRNA. Translation: AAP97146.1. Frameshift.
AK290410 mRNA. Translation: BAF83099.1.
AK298622 mRNA. Translation: BAH12830.1.
AK297873 mRNA. Translation: BAH12683.1.
AK316212 mRNA. Translation: BAH14583.1.
AL121852 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65968.1.
BC017734 mRNA. Translation: AAH17734.1.
AF067205 mRNA. Translation: AAC17907.1.
CCDSiCCDS45092.1. [Q8WVM8-3]
CCDS58308.1. [Q8WVM8-2]
CCDS9639.1. [Q8WVM8-1]
RefSeqiNP_001244305.1. NM_001257376.1. [Q8WVM8-2]
NP_001269961.1. NM_001283032.1.
NP_057190.2. NM_016106.3. [Q8WVM8-1]
NP_878255.1. NM_182835.2. [Q8WVM8-3]
UniGeneiHs.369168.

3D structure databases

ProteinModelPortaliQ8WVM8.
SMRiQ8WVM8. Positions 13-152.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116860. 52 interactions.
IntActiQ8WVM8. 27 interactions.
MINTiMINT-1394008.
STRINGi9606.ENSP00000390783.

PTM databases

iPTMnetiQ8WVM8.
PhosphoSiteiQ8WVM8.
SwissPalmiQ8WVM8.

Polymorphism and mutation databases

BioMutaiSCFD1.
DMDMi51316882.

Proteomic databases

EPDiQ8WVM8.
MaxQBiQ8WVM8.
PaxDbiQ8WVM8.
PeptideAtlasiQ8WVM8.
PRIDEiQ8WVM8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396629; ENSP00000379870; ENSG00000092108. [Q8WVM8-2]
ENST00000458591; ENSP00000390783; ENSG00000092108. [Q8WVM8-1]
ENST00000544052; ENSP00000443010; ENSG00000092108. [Q8WVM8-3]
GeneIDi23256.
KEGGihsa:23256.
UCSCiuc001wqm.3. human. [Q8WVM8-1]

Organism-specific databases

CTDi23256.
GeneCardsiSCFD1.
HGNCiHGNC:20726. SCFD1.
HPAiHPA003579.
neXtProtiNX_Q8WVM8.
PharmGKBiPA134946073.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1301. Eukaryota.
COG5158. LUCA.
GeneTreeiENSGT00550000074845.
HOVERGENiHBG061536.
InParanoidiQ8WVM8.
KOiK19998.
OMAiVYDQYVN.
OrthoDBiEOG091G04JV.
PhylomeDBiQ8WVM8.
TreeFamiTF105740.

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.

Miscellaneous databases

ChiTaRSiSCFD1. human.
GeneWikiiSCFD1.
GenomeRNAii23256.
PROiQ8WVM8.

Gene expression databases

BgeeiENSG00000092108.
CleanExiHS_SCFD1.
ExpressionAtlasiQ8WVM8. baseline and differential.
GenevisibleiQ8WVM8. HS.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSCFD1_HUMAN
AccessioniPrimary (citable) accession number: Q8WVM8
Secondary accession number(s): A8K2Z5
, B7Z4U7, B7Z594, O60754, O94990, Q7Z529, Q9BZI3, Q9UNL3, Q9Y6A8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 138 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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.