SLF1 SMC5-SMC6 complex localization factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLF1provided by HGNC
Official Full Name: SMC5-SMC6 complex localization factor 1provided by HGNC
Primary source: HGNC:HGNC:25408
See related: Ensembl:ENSG00000133302 MIM:618467; AllianceGenome:HGNC:25408
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRCTx; BRCTD1; ANKRD32
Summary: Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in nucleoplasm and site of double-strand break. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis (RPKM 3.1), bone marrow (RPKM 1.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q15

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (94618231..94697621)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (95098399..95182005)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (93954374..94033326)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results describe the cloning, characterization, and targeted mutagenesis of Brctx, a novel gene with a BRCT motif [Brctx].
Title: BRCTx is a novel, highly conserved RAD18-interacting protein.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006Q05 (e-PCR)
- UniSTS:2415

R58928 (e-PCR)
- UniSTS:16050

RH12463 (e-PCR)
- UniSTS:71611

NoName (e-PCR)
- UniSTS:486880

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin looping	NAS Non-traceable Author Statement more info	PubMed
involved_in double-strand break repair via homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of maintenance of mitotic sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Smc5-Smc6 complex	NAS Non-traceable Author Statement more info	PubMed
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromosome, telomeric region	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear inclusion body	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of nucleosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SMC5-SMC6 complex localization factor protein 1

Names: BRCT domain containing 1; BRCT domain-containing protein 1; ankyrin repeat domain 32; ankyrin repeat domain-containing protein 32; smc5/6 localization factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032290.4 → NP_115666.2 SMC5-SMC6 complex localization factor protein 1

See identical proteins and their annotated locations for NP_115666.2

Status: VALIDATED

Source sequence(s)

AC008534, AC025766, BC063674, BU431750, CR936768, DR001089

Consensus CDS

CCDS4071.2

UniProtKB/Swiss-Prot

B4DMG4, Q3B7K4, Q6NSA5, Q6PHW9, Q9BQI6, Q9Y402

UniProtKB/TrEMBL

B4DR33

Related

ENSP00000265140.5, ENST00000265140.10

Conserved Domains (3) summary

cd00204
Location:803 → 918

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:807 → 838

ANK; ANK repeat [structural motif]

cl00038
Location:12 → 88

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

94618231..94697621

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009979.3 → XP_016865468.1 SMC5-SMC6 complex localization factor protein 1 isoform X1

UniProtKB/Swiss-Prot

B4DMG4, Q3B7K4, Q6NSA5, Q6PHW9, Q9BQI6, Q9Y402

UniProtKB/TrEMBL

B4DR33

Conserved Domains (3) summary

cd00204
Location:803 → 918

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:807 → 838

ANK; ANK repeat [structural motif]

cl00038
Location:12 → 88

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_047417830.1 → XP_047273786.1 SMC5-SMC6 complex localization factor protein 1 isoform X2

UniProtKB/TrEMBL

B4DR33
XM_047417831.1 → XP_047273787.1 SMC5-SMC6 complex localization factor protein 1 isoform X3

UniProtKB/TrEMBL

B4DR33
XM_017009981.3 → XP_016865470.1 SMC5-SMC6 complex localization factor protein 1 isoform X2

UniProtKB/TrEMBL

B4DR33

Conserved Domains (4) summary

cd00027
Location:15 → 78

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cd00204
Location:779 → 894

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:787 → 880

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:783 → 814

ANK; ANK repeat [structural motif]
XM_024446235.2 → XP_024302003.1 SMC5-SMC6 complex localization factor protein 1 isoform X3

UniProtKB/TrEMBL

B4DR33

Conserved Domains (3) summary

cd00204
Location:753 → 868

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:757 → 788

ANK; ANK repeat [structural motif]

cl00038
Location:12 → 88

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_047417832.1 → XP_047273788.1 SMC5-SMC6 complex localization factor protein 1 isoform X4

UniProtKB/TrEMBL

B4DR33
XM_024446236.2 → XP_024302004.1 SMC5-SMC6 complex localization factor protein 1 isoform X5

UniProtKB/TrEMBL

B4DR33

Conserved Domains (3) summary

cd00204
Location:803 → 898

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:807 → 838

ANK; ANK repeat [structural motif]

cl00038
Location:12 → 88

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_024446239.2 → XP_024302007.1 SMC5-SMC6 complex localization factor protein 1 isoform X7

Conserved Domains (1) summary

cl00038
Location:12 → 88

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_017009983.2 → XP_016865472.1 SMC5-SMC6 complex localization factor protein 1 isoform X6

Conserved Domains (3) summary

cd00204
Location:344 → 459

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:352 → 445

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:348 → 379

ANK; ANK repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

95098399..95182005

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353686.1 → XP_054209661.1 SMC5-SMC6 complex localization factor protein 1 isoform X1

UniProtKB/Swiss-Prot

B4DMG4, Q3B7K4, Q6NSA5, Q6PHW9, Q9BQI6, Q9Y402

UniProtKB/TrEMBL

B4DR33
XM_054353688.1 → XP_054209663.1 SMC5-SMC6 complex localization factor protein 1 isoform X2

UniProtKB/TrEMBL

B4DR33
XM_054353690.1 → XP_054209665.1 SMC5-SMC6 complex localization factor protein 1 isoform X3

UniProtKB/TrEMBL

B4DR33
XM_054353687.1 → XP_054209662.1 SMC5-SMC6 complex localization factor protein 1 isoform X2

UniProtKB/TrEMBL

B4DR33
XM_054353689.1 → XP_054209664.1 SMC5-SMC6 complex localization factor protein 1 isoform X3

UniProtKB/TrEMBL

B4DR33
XM_054353691.1 → XP_054209666.1 SMC5-SMC6 complex localization factor protein 1 isoform X4

UniProtKB/TrEMBL

B4DR33
XM_054353692.1 → XP_054209667.1 SMC5-SMC6 complex localization factor protein 1 isoform X5

UniProtKB/TrEMBL

B4DR33
XM_054353694.1 → XP_054209669.1 SMC5-SMC6 complex localization factor protein 1 isoform X7
XM_054353693.1 → XP_054209668.1 SMC5-SMC6 complex localization factor protein 1 isoform X6