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HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [ Homo sapiens (human) ]

Gene ID: 89781, updated on 17-Jun-2024

Summary

Official Symbol
HPS4provided by HGNC
Official Full Name
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by HGNC
Primary source
HGNC:HGNC:15844
See related
Ensembl:ENSG00000100099 MIM:606682; AllianceGenome:HGNC:15844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LE; BLOC3S2
Summary
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues See more
Orthologs
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Genomic context

See HPS4 in Genome Data Viewer
Location:
22q12.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26443109..26483863, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26905547..26946273, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26839075..26879829, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 495 Neighboring gene NANOG hESC enhancer GRCh37_chr22:26800879-26801395 Neighboring gene RPS3A pseudogene 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13568 Neighboring gene Sharpr-MPRA regulatory region 14748 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:26836513-26836669 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26837982-26839181 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:26866926-26868125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13569 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26889254-26890453 Neighboring gene SRR1 domain containing Neighboring gene tuftelin interacting protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13570 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26902046-26903245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26908724-26909261 Neighboring gene TFIP11 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1667

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
 
involved_in hemostasis TAS
Traceable Author Statement
more info
PubMed 
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in lysosome organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in melanosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in melanosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in melanosome assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of eye pigmentation TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
involved_in protein stabilization IPI
Inferred from Physical Interaction
more info
PubMed 
involved_in protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein targeting IDA
Inferred from Direct Assay
more info
PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of BLOC-3 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of BLOC-3 complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet dense granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
BLOC-3 complex member HPS4
Names
light-ear protein homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_009763.2 RefSeqGene

    Range
    5001..37982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_590

mRNA and Protein(s)

  1. NM_001349896.1NP_001336825.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000338457.5, ENST00000336873.9
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  2. NM_001349898.2NP_001336827.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000514223.1, ENST00000473782.2
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  3. NM_001349899.2NP_001336828.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  4. NM_001349900.2NP_001336829.1  BLOC-3 complex member HPS4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform c.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93140.1
    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:432549
    dnaA; chromosomal replication initiation protein; Provisional
  5. NM_001349901.1NP_001336830.1  BLOC-3 complex member HPS4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform c.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93140.1
    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
    Related
    ENSP00000415081.3, ENST00000422379.3
    Conserved Domains (1) summary
    cl28271
    Location:432549
    dnaA; chromosomal replication initiation protein; Provisional
  6. NM_001349902.1NP_001336831.1  BLOC-3 complex member HPS4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) encodes isoform d.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93138.1
    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
    Related
    ENSP00000514237.1, ENST00000699250.1
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  7. NM_001349903.2NP_001336832.1  BLOC-3 complex member HPS4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) encodes isoform d.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93138.1
    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  8. NM_001349904.2NP_001336833.1  BLOC-3 complex member HPS4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) encodes isoform e.
    Source sequence(s)
    Z99714
    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  9. NM_001349905.1NP_001336834.1  BLOC-3 complex member HPS4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) encodes isoform e.
    Source sequence(s)
    Z99714
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENST00000699228.1
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  10. NM_001410832.1NP_001397761.1  BLOC-3 complex member HPS4 isoform f

    Status: REVIEWED

    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93139.1
    UniProtKB/TrEMBL
    A0A8V8TN06, Q6P1K3
  11. NM_022081.6NP_071364.4  BLOC-3 complex member HPS4 isoform a

    See identical proteins and their annotated locations for NP_071364.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AK290211, AY043416, BC065030, BQ185676, Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000381213.2, ENST00000398145.7
    Conserved Domains (1) summary
    cl28271
    Location:414531
    dnaA; chromosomal replication initiation protein; Provisional
  12. NM_152841.2NP_690054.1  BLOC-3 complex member HPS4 isoform b

    See identical proteins and their annotated locations for NP_690054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AL365512, BQ185676, Z99714
    Consensus CDS
    CCDS46677.1
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000384185.3, ENST00000402105.7
    Conserved Domains (1) summary
    PRK14086
    Location:409526
    dnaA; chromosomal replication initiation protein; Provisional

RNA

  1. NR_073135.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site at the 5' end and at an internal region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL365512, BC028625, BC050285, BQ185676, Z99714
    Related
    ENST00000699237.1
  2. NR_073136.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs at the 5' end and contains multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY043416, BC028625, BC035614, BQ185676, Z99714
  3. NR_146311.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699246.1
  4. NR_146312.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699238.1
  5. NR_146313.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699243.1
  6. NR_146314.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699240.1
  7. NR_146315.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
  8. NR_146316.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26443109..26483863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441572.1XP_047297528.1  BLOC-3 complex member HPS4 isoform X7

    UniProtKB/TrEMBL
    Q6P1K3
  2. XM_047441580.1XP_047297536.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6P1K3
  3. XM_047441579.1XP_047297535.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6P1K3
  4. XM_047441574.1XP_047297530.1  BLOC-3 complex member HPS4 isoform X7

    UniProtKB/TrEMBL
    Q6P1K3
  5. XM_047441571.1XP_047297527.1  BLOC-3 complex member HPS4 isoform X7

    UniProtKB/TrEMBL
    Q6P1K3
  6. XM_047441578.1XP_047297534.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6P1K3
  7. XM_047441573.1XP_047297529.1  BLOC-3 complex member HPS4 isoform X7

    UniProtKB/TrEMBL
    Q6P1K3
  8. XM_047441576.1XP_047297532.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6P1K3
  9. XM_011530486.3XP_011528788.1  BLOC-3 complex member HPS4 isoform X1

    See identical proteins and their annotated locations for XP_011528788.1

    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    PRK14086
    Location:458575
    dnaA; chromosomal replication initiation protein; Provisional
  10. XM_047441583.1XP_047297539.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
  11. XM_047441564.1XP_047297520.1  BLOC-3 complex member HPS4 isoform X4

    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
  12. XM_047441563.1XP_047297519.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
  13. XM_047441582.1XP_047297538.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
  14. XM_047441577.1XP_047297533.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6P1K3
  15. XM_047441561.1XP_047297517.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
    Related
    ENSP00000514231.1, ENST00000699242.1
  16. XM_047441575.1XP_047297531.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6P1K3
  17. XM_011530490.4XP_011528792.1  BLOC-3 complex member HPS4 isoform X2

    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    PRK14086
    Location:440557
    dnaA; chromosomal replication initiation protein; Provisional
  18. XM_047441581.1XP_047297537.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
  19. XM_047441562.1XP_047297518.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
  20. XM_011530496.3XP_011528798.1  BLOC-3 complex member HPS4 isoform X13

    See identical proteins and their annotated locations for XP_011528798.1

    UniProtKB/TrEMBL
    B3KTD7
    Conserved Domains (1) summary
    PRK14086
    Location:194311
    dnaA; chromosomal replication initiation protein; Provisional
  21. XM_011530495.3XP_011528797.1  BLOC-3 complex member HPS4 isoform X12

    See identical proteins and their annotated locations for XP_011528797.1

    UniProtKB/TrEMBL
    B3KTD7
    Conserved Domains (1) summary
    PRK14086
    Location:243360
    dnaA; chromosomal replication initiation protein; Provisional
  22. XM_017029053.2XP_016884542.1  BLOC-3 complex member HPS4 isoform X11

  23. XM_047441584.1XP_047297540.1  BLOC-3 complex member HPS4 isoform X14

    UniProtKB/TrEMBL
    A0A8V8TPB3, B3KTD7
    Related
    ENSP00000514224.1, ENST00000699235.1
  24. XM_047441568.1XP_047297524.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06, Q6P1K3
    Related
    ENSP00000514238.1, ENST00000699251.1
  25. XM_047441566.1XP_047297522.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6P1K3
  26. XM_047441567.1XP_047297523.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6P1K3
  27. XM_017029046.3XP_016884535.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06, Q6P1K3
  28. XM_047441565.1XP_047297521.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6P1K3
  29. XM_047441569.1XP_047297525.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06, Q6P1K3

RNA

  1. XR_001755364.2 RNA Sequence

  2. XR_007067985.1 RNA Sequence

  3. XR_007067983.1 RNA Sequence

  4. XR_007067986.1 RNA Sequence

  5. XR_007067987.1 RNA Sequence

  6. XR_007067984.1 RNA Sequence

  7. XR_007067989.1 RNA Sequence

  8. XR_007067988.1 RNA Sequence

  9. XR_001755361.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26905547..26946273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326103.1XP_054182078.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6ICH6
  2. XM_054326102.1XP_054182077.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6ICH6
  3. XM_054326101.1XP_054182076.1  BLOC-3 complex member HPS4 isoform X9

    UniProtKB/TrEMBL
    Q6ICH6
  4. XM_054326097.1XP_054182072.1  BLOC-3 complex member HPS4 isoform X7

    UniProtKB/TrEMBL
    Q6ICH6
  5. XM_054326099.1XP_054182074.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6ICH6
  6. XM_054326081.1XP_054182056.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/TrEMBL
    Q6ICH6
  7. XM_054326106.1XP_054182081.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    Q6ICH6
  8. XM_054326090.1XP_054182065.1  BLOC-3 complex member HPS4 isoform X4

    UniProtKB/TrEMBL
    A8K2E6, Q6ICH6
  9. XM_054326089.1XP_054182064.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    Q6ICH6
  10. XM_054326084.1XP_054182059.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/TrEMBL
    Q6ICH6
  11. XM_054326105.1XP_054182080.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    Q6ICH6
  12. XM_054326100.1XP_054182075.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6ICH6
  13. XM_054326087.1XP_054182062.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    Q6ICH6
  14. XM_054326082.1XP_054182057.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/TrEMBL
    Q6ICH6
  15. XM_054326098.1XP_054182073.1  BLOC-3 complex member HPS4 isoform X8

    UniProtKB/TrEMBL
    Q6ICH6
  16. XM_054326085.1XP_054182060.1  BLOC-3 complex member HPS4 isoform X2

    UniProtKB/TrEMBL
    Q6ICH6
  17. XM_054326080.1XP_054182055.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/TrEMBL
    Q6ICH6
  18. XM_054326104.1XP_054182079.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    Q6ICH6
  19. XM_054326088.1XP_054182063.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    Q6ICH6
  20. XM_054326086.1XP_054182061.1  BLOC-3 complex member HPS4 isoform X2

    UniProtKB/TrEMBL
    Q6ICH6
  21. XM_054326083.1XP_054182058.1  BLOC-3 complex member HPS4 isoform X1

    UniProtKB/TrEMBL
    Q6ICH6
  22. XM_054326095.1XP_054182070.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    Q6ICH6
  23. XM_054326092.1XP_054182067.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6ICH6
  24. XM_054326093.1XP_054182068.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6ICH6
  25. XM_054326094.1XP_054182069.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    Q6ICH6
  26. XM_054326091.1XP_054182066.1  BLOC-3 complex member HPS4 isoform X5

    UniProtKB/TrEMBL
    Q6ICH6
  27. XM_054326096.1XP_054182071.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    Q6ICH6

RNA

  1. XR_008485429.1 RNA Sequence

  2. XR_008485424.1 RNA Sequence

  3. XR_008485422.1 RNA Sequence

  4. XR_008485425.1 RNA Sequence

  5. XR_008485426.1 RNA Sequence

  6. XR_008485423.1 RNA Sequence

  7. XR_008485428.1 RNA Sequence

  8. XR_008485427.1 RNA Sequence

  9. XR_008485421.1 RNA Sequence

  10. XR_008485420.1 RNA Sequence

  11. XR_008485419.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152840.1: Suppressed sequence

    Description
    NM_152840.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  2. NM_152842.1: Suppressed sequence

    Description
    NM_152842.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
  3. NM_152843.1: Suppressed sequence

    Description
    NM_152843.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.