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Protein

PH and SEC7 domain-containing protein 4

Gene

PSD4

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

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandLipid-binding

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:EFA6B2 Publications, TIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000125637.15
HGNCiHGNC:19096 PSD4
MIMi614442 gene
neXtProtiNX_Q8NDX1

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

Cell membrane, Cell projection, 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

Binary interactionsi

WithEntry#Exp.IntActNotes
LDLRAP1Q5SW965EBI-12215623,EBI-747813

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117094, 1 interactor
IntActiQ8NDX1, 4 interactors
STRINGi9606.ENSP00000245796

Structurei

3D structure databases

ProteinModelPortaliQ8NDX1
SMRiQ8NDX1
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0932 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00760000119036
HOVERGENiHBG080313
InParanoidiQ8NDX1
KOiK12494
OMAiRAELRCC
OrthoDBiEOG091G06VY
PhylomeDBiQ8NDX1
TreeFamiTF319755

Family and domain databases

Gene3Di1.10.1000.11, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001605 PH_dom-spectrin-type
IPR001849 PH_domain
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
PfamiView protein in Pfam
PF01369 Sec7, 1 hit
PRINTSiPR00683 SPECTRINPH
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00222 Sec7, 1 hit
SUPFAMiSSF48425 SSF48425, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50190 SEC7, 1 hit

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 in CAD30842 (PubMed:12082148).Curated1
Sequence conflicti7L → F in AAD00107 (Ref. 2) Curated1
Sequence conflicti8P → L in AAD00107 (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 dbSNP:rs1562277Ensembl.1
Natural variantiVAR_051922233S → P. Corresponds to variant dbSNP:rs12472091Ensembl.1
Natural variantiVAR_027712269G → A4 PublicationsCorresponds to variant dbSNP:rs4849167Ensembl.1
Natural variantiVAR_051923637R → Q. Corresponds to variant dbSNP:rs45487591Ensembl.1
Natural variantiVAR_051924658I → V. Corresponds to variant dbSNP:rs45574835Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiPSD4_HUMAN
AccessioniPrimary (citable) accession number: Q8NDX1
Secondary accession number(s): A6NEG7
, A8K1Y0, O95621, Q4ZG34, Q6GPH8, Q8IYP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: March 28, 2018
This is version 129 of the entry and version 2 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

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

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