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Protein

HERV-H LTR-associating protein 2

Gene

HHLA2

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

Functioni

Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.1 Publication

Caution

GO - Biological processi

  • positive regulation of activated T cell proliferation Source: UniProtKB
  • positive regulation of cytokine production Source: UniProtKB
  • T cell costimulation Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
HERV-H LTR-associating protein 2
Alternative name(s):
Human endogenous retrovirus-H long terminal repeat-associating protein 2
Gene namesi
Name:HHLA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114455.13
HGNCiHGNC:4905 HHLA2
MIMi604371 gene
neXtProtiNX_Q9UM44

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei345 – 365HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi11148
OpenTargetsiENSG00000114455
PharmGKBiPA29278

Polymorphism and mutation databases

BioMutaiHHLA2
DMDMi74762781

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000024970923 – 414HERV-H LTR-associating protein 2Add BLAST392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi103N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi159 ↔ 210PROSITE-ProRule annotation
Disulfide bondi243 ↔ 317PROSITE-ProRule annotation
Glycosylationi318N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UM44
PeptideAtlasiQ9UM44
PRIDEiQ9UM44

Expressioni

Tissue specificityi

Expressed at high levels in colon, kidney, testis, lung and pancreas, and at lower levels in small intestine, liver and skeletal muscle. In immune cells, highly expressed in B-cells, dendritic cells and macrophages. Not detected in T-cells.2 Publications

Inductioni

Up-regulated in antigen-presenting cells in response to inflammation. Induced in dendritic cells in response to IFNG, poly(I:C) or heat-killed Listeria monocytogenes (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000114455
CleanExiHS_HHLA2
ExpressionAtlasiQ9UM44 baseline and differential
GenevisibleiQ9UM44 HS

Organism-specific databases

HPAiHPA055478

Interactioni

Subunit structurei

Interacts with TMIGD2.1 Publication

Protein-protein interaction databases

IntActiQ9UM44 1 interactor.
STRINGi9606.ENSP00000350402

Structurei

3D structure databases

ProteinModelPortaliQ9UM44
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini61 – 131Ig-like V-type 1Add BLAST71
Domaini138 – 222Ig-like C1-typeAdd BLAST85
Domaini235 – 328Ig-like V-type 2Add BLAST94

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IW89 Eukaryota
ENOG410YQH2 LUCA
GeneTreeiENSGT00700000104325
HOGENOMiHOG000069994
HOVERGENiHBG081600
InParanoidiQ9UM44
OMAiEVVIHWK
OrthoDBiEOG091G0IEZ
PhylomeDBiQ9UM44
TreeFamiTF331083

Family and domain databases

Gene3Di2.60.40.103 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003597 Ig_C1-set
IPR003599 Ig_sub
IPR013106 Ig_V-set
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF07686 V-set, 2 hits
SMARTiView protein in SMART
SM00409 IG, 2 hits
SM00406 IGv, 2 hits
SUPFAMiSSF48726 SSF48726, 3 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits

Sequences (2)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q9UM44-1) [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
MKAQTALSFF LILITSLSGS QGIFPLAFFI YVPMNEQIVI GRLDEDIILP
60 70 80 90 100
SSFERGSEVV IHWKYQDSYK VHSYYKGSDH LESQDPRYAN RTSLFYNEIQ
110 120 130 140 150
NGNASLFFRR VSLLDEGIYT CYVGTAIQVI TNKVVLKVGV FLTPVMKYEK
160 170 180 190 200
RNTNSFLICS VLSVYPRPII TWKMDNTPIS ENNMEETGSL DSFSINSPLN
210 220 230 240 250
ITGSNSSYEC TIENSLLKQT WTGRWTMKDG LHKMQSEHVS LSCQPVNDYF
260 270 280 290 300
SPNQDFKVTW SRMKSGTFSV LAYYLSSSQN TIINESRFSW NKELINQSDF
310 320 330 340 350
SMNLMDLNLS DSGEYLCNIS SDEYTLLTIH TVHVEPSQET ASHNKGLWIL
360 370 380 390 400
VPSAILAAFL LIWSVKCCRA QLEARRSRHP ADGAQQERCC VPPGERCPSA
410
PDNGEENVPL SGKV
Length:414
Mass (Da):46,850
Last modified:May 1, 2000 - v1
Checksum:iD645383E1562F70E
GO
Isoform 2 (identifier: Q9UM44-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: MKAQTALSFF...IQNGNASLFF → MVMWNILKPR...HSHNISEWIS

Note: No experimental confirmation available.
Show »
Length:350
Mass (Da):39,614
Checksum:iCA8A5348FB81487D
GO

Sequence cautioni

The sequence BAA91323 differs from that shown. Reason: Erroneous termination at position 221. Translated as Trp.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02748730I → T. Corresponds to variant dbSNP:rs6779254Ensembl.1
Natural variantiVAR_027488344N → K. Corresponds to variant dbSNP:rs3792332Ensembl.1
Natural variantiVAR_027489364S → R. Corresponds to variant dbSNP:rs6779094Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0547291 – 108MKAQT…ASLFF → MVMWNILKPRTHLLCMTNMF CTRHEGTDSTVFLPHSHNIS EWIS in isoform 2. 1 PublicationAdd BLAST108

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126162 mRNA Translation: AAD48396.1
AK000692 mRNA Translation: BAA91323.1 Sequence problems.
AK296644 mRNA Translation: BAG59244.1
AC078855 Genomic DNA No translation available.
AC135308 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79727.1
CH471052 Genomic DNA Translation: EAW79728.1
BC035971 mRNA Translation: AAH35971.1
CCDSiCCDS46883.1 [Q9UM44-1]
CCDS63713.1 [Q9UM44-2]
RefSeqiNP_001269485.1, NM_001282556.1 [Q9UM44-1]
NP_001269486.1, NM_001282557.1 [Q9UM44-1]
NP_001269487.1, NM_001282558.1
NP_001269488.1, NM_001282559.1 [Q9UM44-2]
NP_009003.1, NM_007072.3 [Q9UM44-1]
XP_005247137.1, XM_005247080.3 [Q9UM44-1]
XP_016861131.1, XM_017005642.1 [Q9UM44-1]
UniGeneiHs.225968
Hs.252351

Genome annotation databases

EnsembliENST00000357759; ENSP00000350402; ENSG00000114455 [Q9UM44-1]
ENST00000467562; ENSP00000418345; ENSG00000114455 [Q9UM44-2]
ENST00000467761; ENSP00000419207; ENSG00000114455 [Q9UM44-1]
ENST00000489514; ENSP00000417856; ENSG00000114455 [Q9UM44-1]
ENST00000619531; ENSP00000482187; ENSG00000114455 [Q9UM44-1]
GeneIDi11148
KEGGihsa:11148
UCSCiuc003dwz.5 human [Q9UM44-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHHLA2_HUMAN
AccessioniPrimary (citable) accession number: Q9UM44
Secondary accession number(s): B4DKN2, D3DN60, Q9NWQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: May 1, 2000
Last modified: February 28, 2018
This is version 138 of the entry and version 1 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