UniProtKB - Q9UM44 (HHLA2_HUMAN)
Protein
HERV-H LTR-associating protein 2
Gene
HHLA2
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- signaling receptor binding Source: GO_Central
GO - Biological processi
- positive regulation of activated T cell proliferation Source: UniProtKB
- positive regulation of cytokine production Source: UniProtKB
- regulation of cytokine production Source: GO_Central
- regulation of immune response Source: GO_Central
- T cell costimulation Source: UniProtKB
- T cell receptor signaling pathway Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q9UM44 |
Names & Taxonomyi
Protein namesi | Recommended name: HERV-H LTR-associating protein 2Alternative name(s): Human endogenous retrovirus-H long terminal repeat-associating protein 2 |
Gene namesi | Name:HHLA2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000114455.13 |
HGNCi | HGNC:4905, HHLA2 |
MIMi | 604371, gene |
neXtProti | NX_Q9UM44 |
Subcellular locationi
Other locations
- Membrane By similarity; Single-pass type I membrane protein By similarity
Plasma Membrane
- external side of plasma membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 345 – 365 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 11148 |
OpenTargetsi | ENSG00000114455 |
PharmGKBi | PA29278 |
Miscellaneous databases
Pharosi | Q9UM44, Tbio |
Polymorphism and mutation databases
BioMutai | HHLA2 |
DMDMi | 74762781 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000249709 | 23 – 414 | HERV-H LTR-associating protein 2Add BLAST | 392 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 90 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 103 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 159 ↔ 210 | PROSITE-ProRule annotation | ||
Disulfide bondi | 243 ↔ 317 | PROSITE-ProRule annotation | ||
Glycosylationi | 318 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q9UM44 |
PaxDbi | Q9UM44 |
PeptideAtlasi | Q9UM44 |
PRIDEi | Q9UM44 |
ProteomicsDBi | 4474 85175 [Q9UM44-1] |
PTM databases
GlyGeni | Q9UM44, 3 sites |
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
Bgeei | ENSG00000114455, Expressed in small intestine and 95 other tissues |
ExpressionAtlasi | Q9UM44, baseline and differential |
Genevisiblei | Q9UM44, HS |
Organism-specific databases
HPAi | ENSG00000114455, Tissue enriched (intestine) |
Interactioni
Subunit structurei
Interacts with TMIGD2.
1 PublicationBinary interactionsi
Hide detailsQ9UM44
GO - Molecular functioni
- signaling receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 116320, 14 interactors |
IntActi | Q9UM44, 17 interactors |
STRINGi | 9606.ENSP00000350402 |
Miscellaneous databases
RNActi | Q9UM44, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 61 – 131 | Ig-like V-type 1Add BLAST | 71 | |
Domaini | 138 – 222 | Ig-like C1-typeAdd BLAST | 85 | |
Domaini | 235 – 328 | Ig-like V-type 2Add BLAST | 94 |
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S3IN, Eukaryota |
GeneTreei | ENSGT00940000162944 |
InParanoidi | Q9UM44 |
OMAi | EGIYICY |
PhylomeDBi | Q9UM44 |
TreeFami | TF331083 |
Family and domain databases
Gene3Di | 2.60.40.10, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF07654, C1-set, 1 hit PF07686, V-set, 2 hits |
SMARTi | View protein in SMART SM00409, IG, 2 hits SM00406, IGv, 2 hits |
SUPFAMi | SSF48726, SSF48726, 3 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UM44-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J7D0 | C9J7D0_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 397 | Annotation score: | ||
H7C523 | H7C523_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 328 | Annotation score: | ||
C9J8J7 | C9J8J7_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 136 | Annotation score: | ||
C9JY13 | C9JY13_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 144 | Annotation score: | ||
C9JY43 | C9JY43_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 97 | Annotation score: | ||
C9JD07 | C9JD07_HUMAN | HERV-H LTR-associating protein 2 | HHLA2 | 128 | Annotation score: |
Sequence cautioni
The sequence BAA91323 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027487 | 30 | I → T. Corresponds to variant dbSNP:rs6779254Ensembl. | 1 | |
Natural variantiVAR_027488 | 344 | N → K. Corresponds to variant dbSNP:rs3792332Ensembl. | 1 | |
Natural variantiVAR_027489 | 364 | S → R. Corresponds to variant dbSNP:rs6779094Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054729 | 1 – 108 | MKAQT…ASLFF → MVMWNILKPRTHLLCMTNMF CTRHEGTDSTVFLPHSHNIS EWIS in isoform 2. 1 PublicationAdd BLAST | 108 |
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 |
CCDSi | CCDS46883.1 [Q9UM44-1] CCDS63713.1 [Q9UM44-2] |
RefSeqi | NP_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 |
Genome annotation databases
Ensembli | ENST00000357759; ENSP00000350402; ENSG00000114455 [Q9UM44-1] ENST00000467562; ENSP00000418345; ENSG00000114455 [Q9UM44-2] ENST00000467761; ENSP00000419207; ENSG00000114455 [Q9UM44-1] ENST00000489514; ENSP00000417856; ENSG00000114455 [Q9UM44-1] ENST00000619531; ENSP00000482187; ENSG00000114455 [Q9UM44-1] |
GeneIDi | 11148 |
KEGGi | hsa:11148 |
UCSCi | uc003dwz.5, human [Q9UM44-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS46883.1 [Q9UM44-1] CCDS63713.1 [Q9UM44-2] |
RefSeqi | NP_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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116320, 14 interactors |
IntActi | Q9UM44, 17 interactors |
STRINGi | 9606.ENSP00000350402 |
PTM databases
GlyGeni | Q9UM44, 3 sites |
Polymorphism and mutation databases
BioMutai | HHLA2 |
DMDMi | 74762781 |
Proteomic databases
MassIVEi | Q9UM44 |
PaxDbi | Q9UM44 |
PeptideAtlasi | Q9UM44 |
PRIDEi | Q9UM44 |
ProteomicsDBi | 4474 85175 [Q9UM44-1] |
Protocols and materials databases
ABCDi | Q9UM44, 2 sequenced antibodies |
Antibodypediai | 32369, 202 antibodies |
DNASUi | 11148 |
Genome annotation databases
Ensembli | ENST00000357759; ENSP00000350402; ENSG00000114455 [Q9UM44-1] ENST00000467562; ENSP00000418345; ENSG00000114455 [Q9UM44-2] ENST00000467761; ENSP00000419207; ENSG00000114455 [Q9UM44-1] ENST00000489514; ENSP00000417856; ENSG00000114455 [Q9UM44-1] ENST00000619531; ENSP00000482187; ENSG00000114455 [Q9UM44-1] |
GeneIDi | 11148 |
KEGGi | hsa:11148 |
UCSCi | uc003dwz.5, human [Q9UM44-1] |
Organism-specific databases
CTDi | 11148 |
DisGeNETi | 11148 |
EuPathDBi | HostDB:ENSG00000114455.13 |
GeneCardsi | HHLA2 |
HGNCi | HGNC:4905, HHLA2 |
HPAi | ENSG00000114455, Tissue enriched (intestine) |
MIMi | 604371, gene |
neXtProti | NX_Q9UM44 |
OpenTargetsi | ENSG00000114455 |
PharmGKBi | PA29278 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3IN, Eukaryota |
GeneTreei | ENSGT00940000162944 |
InParanoidi | Q9UM44 |
OMAi | EGIYICY |
PhylomeDBi | Q9UM44 |
TreeFami | TF331083 |
Enzyme and pathway databases
PathwayCommonsi | Q9UM44 |
Miscellaneous databases
BioGRID-ORCSi | 11148, 0 hits in 840 CRISPR screens |
ChiTaRSi | HHLA2, human |
GenomeRNAii | 11148 |
Pharosi | Q9UM44, Tbio |
PROi | PR:Q9UM44 |
RNActi | Q9UM44, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114455, Expressed in small intestine and 95 other tissues |
ExpressionAtlasi | Q9UM44, baseline and differential |
Genevisiblei | Q9UM44, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 3 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF07654, C1-set, 1 hit PF07686, V-set, 2 hits |
SMARTi | View protein in SMART SM00409, IG, 2 hits SM00406, IGv, 2 hits |
SUPFAMi | SSF48726, SSF48726, 3 hits |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HHLA2_HUMAN | |
Accessioni | Q9UM44Primary (citable) accession number: Q9UM44 Secondary accession number(s): B4DKN2, D3DN60, Q9NWQ6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2006 |
Last sequence update: | May 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations