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    MACF1 microtubule actin crosslinking factor 1 [ Homo sapiens (human) ]

    Gene ID: 23499, updated on 27-Nov-2024

    Summary

    Official Symbol
    MACF1provided by HGNC
    Official Full Name
    microtubule actin crosslinking factor 1provided by HGNC
    Primary source
    HGNC:HGNC:13664
    See related
    Ensembl:ENSG00000127603 MIM:608271; AllianceGenome:HGNC:13664
    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
    ACF7; LIS9; MACF; OFC4; ABP620; KIAA0754; Lnc-PMIF
    Summary
    This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in lung (RPKM 17.3), ovary (RPKM 13.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MACF1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    104
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39084167..39487138)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38951565..39355064)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39549839..39952810)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39491963-39492549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39492550-39493135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39493906-39494071 Neighboring gene uncharacterized LOC124904088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 800 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39517634-39518135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39530834-39531126 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 803 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:39568667-39569222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 804 Neighboring gene Sharpr-MPRA regulatory region 301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39599569-39600336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39605822-39606646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39606647-39607470 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39607555-39608294 Neighboring gene RNA, U6 small nuclear 608, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39637465-39637991 Neighboring gene RNA, 5S ribosomal pseudogene 44 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:39648813-39650012 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39657180-39657722 Neighboring gene Sharpr-MPRA regulatory region 6545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 806 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39679473-39680191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 697 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39691029-39691222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39698122-39698932 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39764567-39764723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 810 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:39812278-39813477 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39811169-39811670 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:39824023-39825222 Neighboring gene MACF1 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 699 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39933786-39933926 Neighboring gene uncharacterized LOC124904101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 811 Neighboring gene tRNA-Lys (anticodon CTT) 12-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 702 Neighboring gene bone morphogenetic protein 8a Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Lissencephaly 9 with complex brainstem malformation
    MedGen: C5193029 OMIM: 618325 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42354, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microtubule minus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of axon extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of epithelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of focal adhesion assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of focal adhesion assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of focal adhesion assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of microtubule-based process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of microtubule-based process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neuron projection arborization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    colocalizes_with intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    microtubule-actin cross-linking factor 1
    Names
    620 kDa actin binding protein
    actin cross-linking family protein 7
    postulated migration inhibitory factor
    trabeculin-alpha

    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_050926.1 RefSeqGene

      Range
      128279..410722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001394062.1NP_001380991.1  microtubule-actin cross-linking factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL137853, AL356055, AL365277, AL442071
      Consensus CDS
      CCDS90919.1
      UniProtKB/TrEMBL
      H3BPE1, H3BQK9
      Related
      ENSP00000455274.1, ENST00000564288.6
      Conserved Domains (11) summary
      smart00243
      Location:72217296
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      smart00150
      Location:69887112
      SPEC; Spectrin repeats
      smart00250
      Location:17641800
      PLEC; Plectin repeat
      PHA03307
      Location:73797553
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0419
      Location:33643905
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:41875025
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5069
      Location:36292
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:71467208
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:63266542
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      TIGR02168
      Location:48775807
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl02488
      Location:11591338
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    2. NM_001397473.1NP_001384402.1  microtubule-actin cross-linking factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL137853, AL365277
      UniProtKB/Swiss-Prot
      E9PMC2, O94854, Q6ZSB2
    3. NM_012090.5NP_036222.3  microtubule-actin cross-linking factor 1 isoform 1

      See identical proteins and their annotated locations for NP_036222.3

      Status: REVIEWED

      Source sequence(s)
      AB007934, AB029290, AF317696, AK127519, AL442071, DA512687, DR423112
      Consensus CDS
      CCDS435.1
      UniProtKB/TrEMBL
      A0A590UJG2
      Related
      ENSP00000354573.2, ENST00000361689.7
      Conserved Domains (8) summary
      smart00243
      Location:51625234
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      smart00150
      Location:49295053
      SPEC; Spectrin repeats
      cd00014
      Location:79181
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:50875149
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:42674483
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam05956
      Location:52515428
      APC_basic; APC basic domain
      pfam13499
      Location:50885148
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:20462253
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      39084167..39487138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      38951565..39355064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015038.2: Suppressed sequence

      Description
      NM_015038.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    2. NM_033044.3: Suppressed sequence

      Description
      NM_033044.3: This RefSeq was permanently suppressed because the CDS was partial.