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

    Gene ID: 89781, updated on 2-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HPS4 in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26443109..26483863, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26905547..26946273, complement)
    RS_2024_09 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 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?

    Phenotypes

    Associated conditions

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • KIAA1667

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to guanyl-nucleotide exchange factor activity  
    contributes_to guanyl-nucleotide exchange factor activity PubMed 
    enables protein binding PubMed 
    enables protein dimerization activity PubMed 
    enables protein homodimerization activity PubMed 
    enables small GTPase binding  
    enables small GTPase binding PubMed 
    Component Evidence Code Pubs
    part_of BLOC-3 complex  
    part_of BLOC-3 complex PubMed 
    located_in cytoplasm PubMed 
    is_active_in cytoplasmic vesicle  
    located_in cytosol  
    is_active_in lysosomal membrane  
    located_in lysosome PubMed 
    located_in melanosome PubMed 
    located_in membrane PubMed 
    located_in platelet dense granule 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
    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_2024_08

    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

    2. XM_047441580.1XP_047297536.1  BLOC-3 complex member HPS4 isoform X9

    3. XM_047441579.1XP_047297535.1  BLOC-3 complex member HPS4 isoform X9

    4. XM_047441574.1XP_047297530.1  BLOC-3 complex member HPS4 isoform X7

    5. XM_047441571.1XP_047297527.1  BLOC-3 complex member HPS4 isoform X7

    6. XM_047441578.1XP_047297534.1  BLOC-3 complex member HPS4 isoform X9

    7. XM_047441573.1XP_047297529.1  BLOC-3 complex member HPS4 isoform X7

    8. XM_047441576.1XP_047297532.1  BLOC-3 complex member HPS4 isoform X8

    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
    11. XM_047441564.1XP_047297520.1  BLOC-3 complex member HPS4 isoform X4

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

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

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

    15. XM_047441561.1XP_047297517.1  BLOC-3 complex member HPS4 isoform X3

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

    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
    19. XM_047441562.1XP_047297518.1  BLOC-3 complex member HPS4 isoform X3

      UniProtKB/TrEMBL
      F1LLU8
    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
      Related
      ENSP00000514224.1, ENST00000699235.1
    24. XM_047441568.1XP_047297524.1  BLOC-3 complex member HPS4 isoform X6

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

    26. XM_047441567.1XP_047297523.1  BLOC-3 complex member HPS4 isoform X5

    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

    29. XM_047441569.1XP_047297525.1  BLOC-3 complex member HPS4 isoform X6

      UniProtKB/TrEMBL
      A0A8V8TN06

    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

    2. XM_054326102.1XP_054182077.1  BLOC-3 complex member HPS4 isoform X9

    3. XM_054326101.1XP_054182076.1  BLOC-3 complex member HPS4 isoform X9

    4. XM_054326097.1XP_054182072.1  BLOC-3 complex member HPS4 isoform X7

    5. XM_054326099.1XP_054182074.1  BLOC-3 complex member HPS4 isoform X8

    6. XM_054326081.1XP_054182056.1  BLOC-3 complex member HPS4 isoform X1

    7. XM_054326106.1XP_054182081.1  BLOC-3 complex member HPS4 isoform X10

    8. XM_054326090.1XP_054182065.1  BLOC-3 complex member HPS4 isoform X4

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

    10. XM_054326084.1XP_054182059.1  BLOC-3 complex member HPS4 isoform X1

    11. XM_054326105.1XP_054182080.1  BLOC-3 complex member HPS4 isoform X10

    12. XM_054326100.1XP_054182075.1  BLOC-3 complex member HPS4 isoform X8

    13. XM_054326087.1XP_054182062.1  BLOC-3 complex member HPS4 isoform X3

    14. XM_054326082.1XP_054182057.1  BLOC-3 complex member HPS4 isoform X1

    15. XM_054326098.1XP_054182073.1  BLOC-3 complex member HPS4 isoform X8

    16. XM_054326085.1XP_054182060.1  BLOC-3 complex member HPS4 isoform X2

    17. XM_054326080.1XP_054182055.1  BLOC-3 complex member HPS4 isoform X1

    18. XM_054326104.1XP_054182079.1  BLOC-3 complex member HPS4 isoform X10

    19. XM_054326088.1XP_054182063.1  BLOC-3 complex member HPS4 isoform X3

    20. XM_054326086.1XP_054182061.1  BLOC-3 complex member HPS4 isoform X2

    21. XM_054326083.1XP_054182058.1  BLOC-3 complex member HPS4 isoform X1

    22. XM_054326095.1XP_054182070.1  BLOC-3 complex member HPS4 isoform X6

    23. XM_054326092.1XP_054182067.1  BLOC-3 complex member HPS4 isoform X5

    24. XM_054326093.1XP_054182068.1  BLOC-3 complex member HPS4 isoform X5

    25. XM_054326094.1XP_054182069.1  BLOC-3 complex member HPS4 isoform X6

    26. XM_054326091.1XP_054182066.1  BLOC-3 complex member HPS4 isoform X5

    27. XM_054326096.1XP_054182071.1  BLOC-3 complex member HPS4 isoform X6

    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

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