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Entry version 119 (07 Oct 2020)
Sequence version 3 (11 Jan 2011)
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Protein

Retroelement silencing factor 1

Gene

RESF1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HCM1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Retroelement silencing factor 1Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RESF1Imported
Synonyms:C12orf35, KIAA1551
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000174718.11

Human Gene Nomenclature Database

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HGNCi
HGNC:25559, RESF1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HCM1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
55196

Open Targets

More...
OpenTargetsi
ENSG00000174718

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485365

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCM1, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA1551

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373452

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002952421 – 1747Retroelement silencing factor 1Add BLAST1747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki216Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei221PhosphoserineCombined sources1
Cross-linki707Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1136Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1145PhosphoserineBy similarity1
Modified residuei1240PhosphothreonineCombined sources1
Modified residuei1358PhosphoserineCombined sources1
Cross-linki1528Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1636Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1708PhosphoserineCombined sources1
Cross-linki1723Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1740PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HCM1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HCM1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HCM1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HCM1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9HCM1

PeptideAtlas

More...
PeptideAtlasi
Q9HCM1

PRoteomics IDEntifications database

More...
PRIDEi
Q9HCM1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81754

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HCM1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HCM1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000174718, Expressed in blood and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HCM1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HCM1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000174718, Tissue enhanced (blood, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SETDB1.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120493, 7 interactors

Database of interacting proteins

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DIPi
DIP-37599N

Protein interaction database and analysis system

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IntActi
Q9HCM1, 19 interactors

Molecular INTeraction database

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MINTi
Q9HCM1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000310338

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HCM1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9HCM1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502S9FU, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000018491

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002739_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HCM1

Identification of Orthologs from Complete Genome Data

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OMAi
AMFQTYK

Database of Orthologous Groups

More...
OrthoDBi
57132at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HCM1

TreeFam database of animal gene trees

More...
TreeFami
TF336094

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027866, RESF1

The PANTHER Classification System

More...
PANTHERi
PTHR21604, PTHR21604, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15395, DUF4617, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9HCM1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNWNEKPKSA TLPPLYPKSQ PPFLHQSLIN QITTTSQSSF SYPGSNQEAC
60 70 80 90 100
MYPGNSNPIS QPLLNIQNYP QQISVSDMHN GTVVASHTSV ERITYANVNG
110 120 130 140 150
PKQLTHNLQM SSGVTQNVWL NSPMRNPVHS HIGATVSHQT DFGANVPNMP
160 170 180 190 200
ALQSQLITSD TYSMQMQMIP SNSTRLPVAY QGNQGLNQSF SEQQVDWTQQ
210 220 230 240 250
CISKGLTYPD YRPPPKLYRY SPQSFLPDST IQKQNFIPHT SLQVKNSQLL
260 270 280 290 300
NSVLTLPSRQ TSAVPSQQYA TQTDKRPPPP PYNCRYGSQP LQSTQHITKH
310 320 330 340 350
LSMEVPQSRE MLSSEIRTSF QQQWQNPNEN VSTIGNFTNL KVNTNSKQPF
360 370 380 390 400
NSPIRSSVDG VQTLAQTNEE KIMDSCNPTS NQVLDTSVAK EKLVRDIKTL
410 420 430 440 450
VEIKQKFSEL ARKIKINKDL LMAAGCIKMT NTSYSEPAQN SKLSLKQTAK
460 470 480 490 500
IQSGPQITPV MPENAERQTP TVVESAETNK TQCMLNSDIQ EVNCRRFNQV
510 520 530 540 550
DSVLPNPVYS EKRPMPDSSH DVKVLTSKTS AVEMTQAVLN TQLSSENVTK
560 570 580 590 600
VEQNSPAVCE TISVPKSMST EEYKSKIQNE NMLLLALLSQ ARKTQKTVLK
610 620 630 640 650
DANQTIQDSK PDSCEMNPNT QMTGNQLNLK NMETPSTSNV SGRVLDNSFC
660 670 680 690 700
SGQESSTKGM PAKSDSSCSM EVLATCLSLW KKQPSDTAKE KECDKLRTNT
710 720 730 740 750
TAVGISKPAN IHVKSPCSVV GNSNSQNKIS NPSQQTALSM VMHNYESSGI
760 770 780 790 800
NITKGTELQI AVVSPLVLSE VKTLSVKGIT PAVLPETVYP VIKEGSVCSL
810 820 830 840 850
QNQLAENAKA TAALKVDVSG PVASTATSTK IFPLTQKEKQ NESTNGNSEV
860 870 880 890 900
TPNVNQGKHN KLESAIHSPM NDQQISQESR NSTVVSSDTL QIDNICSLVE
910 920 930 940 950
GDTSYNSQIA KIFSSLPLKM VEPQKPSLPN QQGIGSREPE KQLDNTTENK
960 970 980 990 1000
DFGFQKDKPV QCTDVSHKIC DQSKSEPPLE SSFNNLETNR VILEKSSLEH
1010 1020 1030 1040 1050
ATEKSTANDT CSSAAIQEDI YPQEIDASSN YTPQDPARNE IHSDKAPVLY
1060 1070 1080 1090 1100
LHDQLSELLK EFPYGIEAVN TREGSVGQQT TYQTSEDQTA DKTSSDSKDP
1110 1120 1130 1140 1150
ADQIQITILS SEQMKEIFPE QDDQPYVVDK LAEPQKEEPI TEVVSQCDLQ
1160 1170 1180 1190 1200
APAAGQSRDS VILDSEKDDI HCCALGWLSM VYEGVPQCQC NSIKNSSSEE
1210 1220 1230 1240 1250
EKQKEQCSPL DTNSCKQGER TSDRDVTVVQ FKSLVNNPKT PPDGKSHFPE
1260 1270 1280 1290 1300
LQDDSRKDTP KTKHKSLPRT EQELVAGQFS SKCDKLNPLQ NHKRKKLRFH
1310 1320 1330 1340 1350
EVTFHSSNKM TASYEQASQE TRQKKHVTQN SRPLKTKTAF LPNKDVYKKH
1360 1370 1380 1390 1400
SSLGQSLSPE KIKLKLKSVS FKQKRKLDQG NVLDMEVKKK KHDKQEQKGS
1410 1420 1430 1440 1450
VGATFKLGDS LSNPNERAIV KEKMVSNTKS VDTKASSSKF SRILTPKEYL
1460 1470 1480 1490 1500
QRQKHKEALS NKASKKICVK NVPCDSEHMR PSKLAVQVES CGKSNEKHSS
1510 1520 1530 1540 1550
GVQTSKESLN GLTSHGKNLK IHHSQESKTY NILRNVKEKV GGKQPDKIWI
1560 1570 1580 1590 1600
DKTKLDKLTN ISNEAQFSQM PPQVKDQKKL YLNRVGFKCT ERESISLTKL
1610 1620 1630 1640 1650
ESSPRKLHKD KRQENKHKTF LPVKGNTEKS NMLEFKLCPD ILLKNTNSVE
1660 1670 1680 1690 1700
ERKDVKPHPR KEQAPLQVSG IKSTKEDWLK FVATKKRTQK DSQERDNVNS
1710 1720 1730 1740
RLSKRSFSAD GFEMLQNPVK DSKEMFQTYK QMYLEKRSRS LGSSPVK
Length:1,747
Mass (Da):194,857
Last modified:January 11, 2011 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i41EE41C7ABC65A13
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KPI3J3KPI3_HUMAN
Retroelement silencing factor 1
RESF1
674Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H488F5H488_HUMAN
Retroelement silencing factor 1
RESF1
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91330 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA91734 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB13377 differs from that shown. Contaminating sequence. Sequence of unknown origin in the C-terminal part.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1152P → L in BAA91330 (PubMed:14702039).Curated1
Sequence conflicti1459L → P in BAA91734 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03326859I → V. Corresponds to variant dbSNP:rs7298803Ensembl.1
Natural variantiVAR_033269106H → Q. Corresponds to variant dbSNP:rs2388981Ensembl.1
Natural variantiVAR_061608147P → S. Corresponds to variant dbSNP:rs61353224EnsemblClinVar.1
Natural variantiVAR_033270202I → V. Corresponds to variant dbSNP:rs12320740Ensembl.1
Natural variantiVAR_033271250L → P. Corresponds to variant dbSNP:rs2166807Ensembl.1
Natural variantiVAR_033272309R → Q1 PublicationCorresponds to variant dbSNP:rs16919122Ensembl.1
Natural variantiVAR_033273346S → N. Corresponds to variant dbSNP:rs3207618Ensembl.1
Natural variantiVAR_033274352S → G2 PublicationsCorresponds to variant dbSNP:rs10771894Ensembl.1
Natural variantiVAR_033275433S → T. Corresponds to variant dbSNP:rs3759302Ensembl.1
Natural variantiVAR_033276518S → P3 PublicationsCorresponds to variant dbSNP:rs3759301Ensembl.1
Natural variantiVAR_033277954F → S. Corresponds to variant dbSNP:rs3809228Ensembl.1
Natural variantiVAR_0332781010T → K. Corresponds to variant dbSNP:rs16919127Ensembl.1
Natural variantiVAR_0332791208S → C1 PublicationCorresponds to variant dbSNP:rs3759299Ensembl.1
Natural variantiVAR_0332801226V → I. Corresponds to variant dbSNP:rs1057994Ensembl.1
Natural variantiVAR_0332811338T → A. Corresponds to variant dbSNP:rs3759296Ensembl.1
Natural variantiVAR_0616091479M → T. Corresponds to variant dbSNP:rs56682866EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC016957 Genomic DNA No translation available.
BC098115 mRNA Translation: AAH98115.1
BC114509 mRNA Translation: AAI14510.1
BC114956 mRNA Translation: AAI14957.1
BC140819 mRNA Translation: AAI40820.1
AK000703 mRNA Translation: BAA91330.1 Sequence problems.
AK001514 mRNA Translation: BAA91734.1 Different initiation.
AK092399 mRNA No translation available.
AB046771 mRNA Translation: BAB13377.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8725.2

NCBI Reference Sequences

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RefSeqi
NP_060639.3, NM_018169.3
XP_005253462.1, XM_005253405.2
XP_011519024.1, XM_011520722.1
XP_016875039.1, XM_017019550.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000312561; ENSP00000310338; ENSG00000174718

Database of genes from NCBI RefSeq genomes

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GeneIDi
55196

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55196

UCSC genome browser

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UCSCi
uc001rks.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC016957 Genomic DNA No translation available.
BC098115 mRNA Translation: AAH98115.1
BC114509 mRNA Translation: AAI14510.1
BC114956 mRNA Translation: AAI14957.1
BC140819 mRNA Translation: AAI40820.1
AK000703 mRNA Translation: BAA91330.1 Sequence problems.
AK001514 mRNA Translation: BAA91734.1 Different initiation.
AK092399 mRNA No translation available.
AB046771 mRNA Translation: BAB13377.1 Sequence problems.
CCDSiCCDS8725.2
RefSeqiNP_060639.3, NM_018169.3
XP_005253462.1, XM_005253405.2
XP_011519024.1, XM_011520722.1
XP_016875039.1, XM_017019550.1

3D structure databases

SMRiQ9HCM1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120493, 7 interactors
DIPiDIP-37599N
IntActiQ9HCM1, 19 interactors
MINTiQ9HCM1
STRINGi9606.ENSP00000310338

PTM databases

iPTMnetiQ9HCM1
PhosphoSitePlusiQ9HCM1

Polymorphism and mutation databases

BioMutaiKIAA1551
DMDMi317373452

Proteomic databases

EPDiQ9HCM1
jPOSTiQ9HCM1
MassIVEiQ9HCM1
MaxQBiQ9HCM1
PaxDbiQ9HCM1
PeptideAtlasiQ9HCM1
PRIDEiQ9HCM1
ProteomicsDBi81754

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2871, 27 antibodies

Genome annotation databases

EnsembliENST00000312561; ENSP00000310338; ENSG00000174718
GeneIDi55196
KEGGihsa:55196
UCSCiuc001rks.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55196
DisGeNETi55196
EuPathDBiHostDB:ENSG00000174718.11

GeneCards: human genes, protein and diseases

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GeneCardsi
RESF1
HGNCiHGNC:25559, RESF1
HPAiENSG00000174718, Tissue enhanced (blood, lymphoid tissue)
neXtProtiNX_Q9HCM1
OpenTargetsiENSG00000174718
PharmGKBiPA143485365

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502S9FU, Eukaryota
GeneTreeiENSGT00390000018491
HOGENOMiCLU_002739_0_0_1
InParanoidiQ9HCM1
OMAiAMFQTYK
OrthoDBi57132at2759
PhylomeDBiQ9HCM1
TreeFamiTF336094

Enzyme and pathway databases

PathwayCommonsiQ9HCM1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
55196, 4 hits in 874 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KIAA1551, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55196
PharosiQ9HCM1, Tdark

Protein Ontology

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PROi
PR:Q9HCM1
RNActiQ9HCM1, protein

Gene expression databases

BgeeiENSG00000174718, Expressed in blood and 235 other tissues
ExpressionAtlasiQ9HCM1, baseline and differential
GenevisibleiQ9HCM1, HS

Family and domain databases

InterProiView protein in InterPro
IPR027866, RESF1
PANTHERiPTHR21604, PTHR21604, 1 hit
PfamiView protein in Pfam
PF15395, DUF4617, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRESF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HCM1
Secondary accession number(s): B2RTU5
, Q4KN17, Q9NVL6, Q9NWP9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: January 11, 2011
Last modified: October 7, 2020
This is version 119 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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