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Protein

PH and SEC7 domain-containing protein 4

Gene

PSD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159352-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
PH and SEC7 domain-containing protein 4
Alternative name(s):
Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B
Short name:
Exchange factor for ARF6 B
Pleckstrin homology and SEC7 domain-containing protein 4
Telomeric of interleukin-1 cluster protein
Gene namesi
Name:PSD4
Synonyms:EFA6B, TIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:19096. PSD4.

Subcellular locationi

  • Cell membrane 1 Publication

  • Note: Accumulates in dynamic actin-rich membrane ruffles and microvilli-like structures. Recruited to membranes via phosphatidylinositol phosphate-binding.

GO - Cellular componenti

  • membrane Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23550.
OpenTargetsiENSG00000125637.
PharmGKBiPA134875981.

Polymorphism and mutation databases

BioMutaiPSD4.
DMDMi115515975.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002517311 – 1056PH and SEC7 domain-containing protein 4Add BLAST1056

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei131PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1
Modified residuei143PhosphoserineCombined sources1
Modified residuei413PhosphoserineCombined sources1
Modified residuei448PhosphoserineCombined sources1
Modified residuei469PhosphoserineBy similarity1
Modified residuei491PhosphoserineCombined sources1
Modified residuei1019PhosphoserineCombined sources1
Modified residuei1022PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NDX1.
MaxQBiQ8NDX1.
PaxDbiQ8NDX1.
PeptideAtlasiQ8NDX1.
PRIDEiQ8NDX1.

PTM databases

iPTMnetiQ8NDX1.
PhosphoSitePlusiQ8NDX1.

Expressioni

Tissue specificityi

Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood.1 Publication

Gene expression databases

BgeeiENSG00000125637.
CleanExiHS_PSD4.
ExpressionAtlasiQ8NDX1. baseline and differential.
GenevisibleiQ8NDX1. HS.

Organism-specific databases

HPAiHPA034722.
HPA034723.

Interactioni

Protein-protein interaction databases

BioGridi117094. 1 interactor.
IntActiQ8NDX1. 4 interactors.
STRINGi9606.ENSP00000245796.

Structurei

3D structure databases

ProteinModelPortaliQ8NDX1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini544 – 736SEC7PROSITE-ProRule annotationAdd BLAST193
Domaini776 – 892PHPROSITE-ProRule annotationAdd BLAST117

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili921 – 976Sequence analysisAdd BLAST56

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 SEC7 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0932. Eukaryota.
COG5307. LUCA.
GeneTreeiENSGT00860000133718.
HOVERGENiHBG080313.
InParanoidiQ8NDX1.
KOiK12494.
OMAiRAELRCC.
OrthoDBiEOG091G06VY.
PhylomeDBiQ8NDX1.
TreeFamiTF319755.

Family and domain databases

Gene3Di1.10.1000.11. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001605. PH_dom-spectrin-type.
IPR001849. PH_domain.
IPR023394. Sec7_alpha_orthog.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF01369. Sec7. 1 hit.
[Graphical view]
PRINTSiPR00683. SPECTRINPH.
SMARTiSM00233. PH. 1 hit.
SM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48425. SSF48425. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50190. SEC7. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NDX1-1) [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
MMGDYRLPDH PQPMEILNLY LGDSLEPHPG ECPRETCSHE DPPEPFEEQT
60 70 80 90 100
WATDPPEPTR QNVPPWGSGV ELTHLGSWVH QDGLEPCQEQ TRATDPPEST
110 120 130 140 150
RQDAPPWGSG VELTHLGSPS AQREHRQNTA SPGSPVNSHL PGSPKQNRST
160 170 180 190 200
STQVVFWAGI LQAQMCVLDL EEELEKTEGL KAGLKCCLPT PPVDLPGDTG
210 220 230 240 250
LHSSPPENED SGEDSSEPEG EGQAWLREGT PDSSPQWGAE EESMFFSNPL
260 270 280 290 300
FLASPCSENS ASGECFSWGA SDSHAGVRTG PESPATLEPP LPEDTVLWEL
310 320 330 340 350
ESEPDLGDGA AISGHCTPPF PVPIYKPHSI CWASVAAAEG APAAPPGHGE
360 370 380 390 400
SEGDRLGPAP SAAPCVDEAL TWESGCVGSD LGPAAHPVQP WASLSPEGWQ
410 420 430 440 450
RGGPFWPQVT LNSQDRDERE GGHPQESLPC TLAPCPWRSP ASSPEPSSPE
460 470 480 490 500
SESRGPGPRP SPASSQEGSP QLQHHSSGIL PKWTLDASQS SLLETDGEQP
510 520 530 540 550
SSLKKKEAGE APKPGEEVKS EGTARPAETG DVQPDIHLTS AEHENLRTPM
560 570 580 590 600
NSSWLPGSPM PQAQSPEEGQ RPPAGDKLAN GVRNNKVAWN LASRLYRLEG
610 620 630 640 650
FRKSEVAAYL QKNNDFSRAV AEEYLSFFQF GGQSLDRALR SFLQALVLSG
660 670 680 690 700
ETQERERILY QFSRRFHHCN PGIFPSVDSV HTLTCAIMLL NTDLHGQNIG
710 720 730 740 750
KSMSCQEFIT NLNGLRDGGN FPKELLKALY WSIRSEKLEW AVDEEDTARP
760 770 780 790 800
EKAQPSLPAG KMSKPFLQLA QDPTVPTYKQ GILARKMHQD ADGKKTPWGK
810 820 830 840 850
RGWKMFHTLL RGMVLYFLKQ GEDHCLEGES LVGQMVDEPV GVHHSLATPA
860 870 880 890 900
THYTKKPHVF QLRTADWRLY LFQAPTAKEM SSWIARINLA AATHSAPPFP
910 920 930 940 950
AAVGSQRRFV RPILPVGPAQ SSLEEQHRSH ENCLDAAADD LLDLQRNLPE
960 970 980 990 1000
RRGRGRELEE HRLRKEYLEY EKTRYETYVQ LLVARLHCPS DALDLWEEQL
1010 1020 1030 1040 1050
GREAGGTREP KLSLKKSHSS PSLHQDEAPT TAKVKRNISE RRTYRKIIPK

RNRNQL
Length:1,056
Mass (Da):116,249
Last modified:October 3, 2006 - v2
Checksum:iC1FC0F22DB596116
GO
Isoform 2 (identifier: Q8NDX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-444: Missing.
     820-820: Missing.

Show »
Length:1,027
Mass (Da):113,134
Checksum:i7BA4FE0FDF818385
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7L → F (PubMed:12082148).Curated1
Sequence conflicti7L → F (Ref. 2) Curated1
Sequence conflicti8P → L (Ref. 2) Curated1
Sequence conflicti124E → D in AAH35307 (PubMed:15489334).Curated1
Sequence conflicti410T → I in AAD00107 (Ref. 2) Curated1
Sequence conflicti428L → F in AAD00107 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05192183G → R.Corresponds to variant rs1562277dbSNPEnsembl.1
Natural variantiVAR_051922233S → P.Corresponds to variant rs12472091dbSNPEnsembl.1
Natural variantiVAR_027712269G → A.4 PublicationsCorresponds to variant rs4849167dbSNPEnsembl.1
Natural variantiVAR_051923637R → Q.Corresponds to variant rs45487591dbSNPEnsembl.1
Natural variantiVAR_051924658I → V.Corresponds to variant rs45574835dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020772417 – 444Missing in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_020773820Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ459781 mRNA. Translation: CAD30842.1.
U63127 mRNA. Translation: AAD00107.1.
DQ452296 Genomic DNA. Translation: ABD96831.1.
AK290045 mRNA. Translation: BAF82734.1.
AC016683 Genomic DNA. Translation: AAX88879.1.
CH471217 Genomic DNA. Translation: EAW73626.1.
BC035307 mRNA. Translation: AAH35307.1.
BC073151 mRNA. Translation: AAH73151.1.
CCDSiCCDS33276.1. [Q8NDX1-1]
RefSeqiNP_036587.2. NM_012455.2. [Q8NDX1-1]
XP_005263691.1. XM_005263634.2. [Q8NDX1-1]
UniGeneiHs.516306.

Genome annotation databases

EnsembliENST00000245796; ENSP00000245796; ENSG00000125637. [Q8NDX1-1]
ENST00000441564; ENSP00000413997; ENSG00000125637. [Q8NDX1-2]
GeneIDi23550.
KEGGihsa:23550.
UCSCiuc002tjc.4. human. [Q8NDX1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ459781 mRNA. Translation: CAD30842.1.
U63127 mRNA. Translation: AAD00107.1.
DQ452296 Genomic DNA. Translation: ABD96831.1.
AK290045 mRNA. Translation: BAF82734.1.
AC016683 Genomic DNA. Translation: AAX88879.1.
CH471217 Genomic DNA. Translation: EAW73626.1.
BC035307 mRNA. Translation: AAH35307.1.
BC073151 mRNA. Translation: AAH73151.1.
CCDSiCCDS33276.1. [Q8NDX1-1]
RefSeqiNP_036587.2. NM_012455.2. [Q8NDX1-1]
XP_005263691.1. XM_005263634.2. [Q8NDX1-1]
UniGeneiHs.516306.

3D structure databases

ProteinModelPortaliQ8NDX1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117094. 1 interactor.
IntActiQ8NDX1. 4 interactors.
STRINGi9606.ENSP00000245796.

PTM databases

iPTMnetiQ8NDX1.
PhosphoSitePlusiQ8NDX1.

Polymorphism and mutation databases

BioMutaiPSD4.
DMDMi115515975.

Proteomic databases

EPDiQ8NDX1.
MaxQBiQ8NDX1.
PaxDbiQ8NDX1.
PeptideAtlasiQ8NDX1.
PRIDEiQ8NDX1.

Protocols and materials databases

DNASUi23550.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245796; ENSP00000245796; ENSG00000125637. [Q8NDX1-1]
ENST00000441564; ENSP00000413997; ENSG00000125637. [Q8NDX1-2]
GeneIDi23550.
KEGGihsa:23550.
UCSCiuc002tjc.4. human. [Q8NDX1-1]

Organism-specific databases

CTDi23550.
DisGeNETi23550.
GeneCardsiPSD4.
H-InvDBHIX0002390.
HGNCiHGNC:19096. PSD4.
HPAiHPA034722.
HPA034723.
MIMi614442. gene.
neXtProtiNX_Q8NDX1.
OpenTargetsiENSG00000125637.
PharmGKBiPA134875981.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0932. Eukaryota.
COG5307. LUCA.
GeneTreeiENSGT00860000133718.
HOVERGENiHBG080313.
InParanoidiQ8NDX1.
KOiK12494.
OMAiRAELRCC.
OrthoDBiEOG091G06VY.
PhylomeDBiQ8NDX1.
TreeFamiTF319755.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159352-MONOMER.

Miscellaneous databases

ChiTaRSiPSD4. human.
GenomeRNAii23550.
PROiQ8NDX1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125637.
CleanExiHS_PSD4.
ExpressionAtlasiQ8NDX1. baseline and differential.
GenevisibleiQ8NDX1. HS.

Family and domain databases

Gene3Di1.10.1000.11. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001605. PH_dom-spectrin-type.
IPR001849. PH_domain.
IPR023394. Sec7_alpha_orthog.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF01369. Sec7. 1 hit.
[Graphical view]
PRINTSiPR00683. SPECTRINPH.
SMARTiSM00233. PH. 1 hit.
SM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48425. SSF48425. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50190. SEC7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPSD4_HUMAN
AccessioniPrimary (citable) accession number: Q8NDX1
Secondary accession number(s): A6NEG7
, A8K1Y0, O95621, Q4ZG34, Q6GPH8, Q8IYP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: November 30, 2016
This is version 118 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 2
    Human chromosome 2: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.