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Protein

Sec1 family domain-containing protein 1

Gene

SCFD1

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

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-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

EuPathDBiHostDB:ENSG00000092108.20
HGNCiHGNC:20726 SCFD1
neXtProtiNX_Q8WVM8

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, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23256
OpenTargetsiENSG00000092108
PharmGKBiPA134946073

Polymorphism and mutation databases

BioMutaiSCFD1
DMDMi51316882

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources2 Publications
ChainiPRO_00002062872 – 642Sec1 family domain-containing protein 1Add BLAST641

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei37PhosphoserineBy similarity1
Modified residuei303PhosphoserineCombined sources1
Modified residuei528PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WVM8
MaxQBiQ8WVM8
PaxDbiQ8WVM8
PeptideAtlasiQ8WVM8
PRIDEiQ8WVM8
ProteomicsDBi74805

PTM databases

iPTMnetiQ8WVM8
PhosphoSitePlusiQ8WVM8
SwissPalmiQ8WVM8

Expressioni

Gene expression databases

BgeeiENSG00000092108 Expressed in 230 organ(s), highest expression level in intestine
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, 54 interactors
IntActiQ8WVM8, 35 interactors
MINTiQ8WVM8
STRINGi9606.ENSP00000390783

Structurei

3D structure databases

ProteinModelPortaliQ8WVM8
SMRiQ8WVM8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 13Poly-AlaAdd BLAST12

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1301 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00550000074845
HOVERGENiHBG061536
InParanoidiQ8WVM8
KOiK19998
OMAiIWKVLVF
OrthoDBiEOG091G04JV
PhylomeDBiQ8WVM8
TreeFamiTF105740

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
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

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5F3G3V5F3_HUMAN
Sec1 family domain-containing prote...
SCFD1
121Annotation score:
G3V2M8G3V2M8_HUMAN
Sec1 family domain-containing prote...
SCFD1
198Annotation score:
G3V5E2G3V5E2_HUMAN
Sec1 family domain-containing prote...
SCFD1
84Annotation score:
H0YJY1H0YJY1_HUMAN
Sec1 family domain-containing prote...
SCFD1
144Annotation score:
J3KNG4J3KNG4_HUMAN
Sec1 family domain-containing prote...
SCFD1
163Annotation score:
G3V363G3V363_HUMAN
Sec1 family domain-containing prote...
SCFD1
92Annotation score:
H0YJS6H0YJS6_HUMAN
Sec1 family domain-containing prote...
SCFD1
102Annotation score:
G3V4I1G3V4I1_HUMAN
Sec1 family domain-containing prote...
SCFD1
75Annotation score:
G3V551G3V551_HUMAN
Sec1 family domain-containing prote...
SCFD1
55Annotation score:
G3V3K9G3V3K9_HUMAN
Sec1 family domain-containing prote...
SCFD1
48Annotation score:
There is more potential isoformShow all

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)DescriptionActionsGraphical viewLength
Sequence conflicti42V → I in AAG50273 (Ref. 3) Curated1
Sequence conflicti136 – 137AA → EL in AAD40381 (Ref. 2) Curated2
Sequence conflicti201 – 206FVTLGA → YGTRGD in AAD48586 (Ref. 2) Curated6
Sequence conflicti201 – 202FV → YG in AAD40381 (Ref. 2) Curated2
Sequence conflicti201 – 202FV → YG in AAP97146 (Ref. 4) Curated2
Sequence conflicti206A → D in AAP97146 (Ref. 4) Curated1
Sequence conflicti453K → N in AAD48586 (Ref. 2) Curated1
Sequence conflicti484 – 485GC → EM in AAD40381 (Ref. 2) Curated2
Sequence conflicti485Missing in AAD48586 (Ref. 2) Curated1
Sequence conflicti562 – 563ET → KL in AAD40381 (Ref. 2) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01961663K → R2 PublicationsCorresponds to variant dbSNP:rs229150Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0470701 – 92Missing in isoform 2. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_0470711 – 67Missing in isoform 3. 1 PublicationAdd BLAST67

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116860, 54 interactors
IntActiQ8WVM8, 35 interactors
MINTiQ8WVM8
STRINGi9606.ENSP00000390783

PTM databases

iPTMnetiQ8WVM8
PhosphoSitePlusiQ8WVM8
SwissPalmiQ8WVM8

Polymorphism and mutation databases

BioMutaiSCFD1
DMDMi51316882

Proteomic databases

EPDiQ8WVM8
MaxQBiQ8WVM8
PaxDbiQ8WVM8
PeptideAtlasiQ8WVM8
PRIDEiQ8WVM8
ProteomicsDBi74805

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
DisGeNETi23256
EuPathDBiHostDB:ENSG00000092108.20
GeneCardsiSCFD1
HGNCiHGNC:20726 SCFD1
HPAiHPA003579
neXtProtiNX_Q8WVM8
OpenTargetsiENSG00000092108
PharmGKBiPA134946073
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1301 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00550000074845
HOVERGENiHBG061536
InParanoidiQ8WVM8
KOiK19998
OMAiIWKVLVF
OrthoDBiEOG091G04JV
PhylomeDBiQ8WVM8
TreeFamiTF105740

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport

Miscellaneous databases

ChiTaRSiSCFD1 human
GeneWikiiSCFD1
GenomeRNAii23256
PROiPR:Q8WVM8

Gene expression databases

BgeeiENSG00000092108 Expressed in 230 organ(s), highest expression level in intestine
CleanExiHS_SCFD1
ExpressionAtlasiQ8WVM8 baseline and differential
GenevisibleiQ8WVM8 HS

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 156 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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